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Smart Reasoning:

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Qaagi - Book of Why

Causes

Effects

Genomic mutationscausingsplicing mutations

nucleotide substitutionscausingsplicing mutations

using intraallelic L1 distanceto discoversplicing mutations

exonic mutations(passive) caused bysplicing mutations

site - directed mutagenesis(passive) were created bySplice mutations

substitution of G residue of GT consensus sequence in donor splice site(passive) was caused bySplice site mutation

Defective mRNA splicing caused by single nucleotide polymorphisms ( SNPs ) and/orresultssplice site mutations

as neo has been foundto causesplicing mutations

Ser116Ser , predictedto causesplice site mutation

the prevalence of deep intronic MYBPC3 pathogenic variationscould leadto splice mutations

to in - frame exon skippingleadingto in - frame exon skipping

Transcription - coupled RNA surveillance in human genetic diseases(passive) caused byTranscription - coupled RNA surveillance in human genetic diseases

to aberrant pre - mRNA splicing , which results in exon skipping , activation of cryptic splice sites , creation of a pseudo - exon within an intron , or intron retention [ 20usually leadto aberrant pre - mRNA splicing , which results in exon skipping , activation of cryptic splice sites , creation of a pseudo - exon within an intron , or intron retention [ 20

exon skipping ( 35causingexon skipping ( 35

in ( multi)exon skippingresultingin ( multi)exon skipping

animal models for human genetic diseases(passive) caused byanimal models for human genetic diseases

several genetic diseases(passive) caused byseveral genetic diseases

approximately 15 % of human genetic diseases [ 3causeapproximately 15 % of human genetic diseases [ 3

exon skipping without frameshiftcausingexon skipping without frameshift

Retinal degenerations and other genetic diseases(passive) are often caused byRetinal degenerations and other genetic diseases

exon skipping leading to aberrant , out of frame transcriptscausedexon skipping leading to aberrant , out of frame transcripts

to exon - skipping or activation of cryptic splice sites ... 24]–[26can leadto exon - skipping or activation of cryptic splice sites ... 24]–[26

to abnormal pre - mRNA splicing , which results in exon skipping , activation of cryptic splice sites , creation of pseudo - exons within introns , and intron retention [ 25usually leadto abnormal pre - mRNA splicing , which results in exon skipping , activation of cryptic splice sites , creation of pseudo - exons within introns , and intron retention [ 25

exon skipping occur at around the frequencycauseexon skipping occur at around the frequency

within the genome to induce exon skippingare createdwithin the genome to induce exon skipping

several human diseases(passive) caused byseveral human diseases

in aberrant splicingresultingin aberrant splicing

optiond part ... in exon - skipping in more 3 positions in the generesultoptiond part ... in exon - skipping in more 3 positions in the gene

retinal diseases(passive) are caused byretinal diseases

various genetic diseases , such as metabolic , neurological and muscular disorderscausingvarious genetic diseases , such as metabolic , neurological and muscular disorders

Full Text Link to Item Eichers , ER , Green , JS , Stockton , DW , Jackman , CS , Whelan , J , McNamara , JA , Johnson , GJ , Lupski , JR , and Katsanis , N. " Newfoundland rod - cone dystrophy , an early - onset retinal dystrophy(passive) is caused byFull Text Link to Item Eichers , ER , Green , JS , Stockton , DW , Jackman , CS , Whelan , J , McNamara , JA , Johnson , GJ , Lupski , JR , and Katsanis , N. " Newfoundland rod - cone dystrophy , an early - onset retinal dystrophy

to in - frame exonic deletions as well as in - frame deletionsleadingto in - frame exonic deletions as well as in - frame deletions

LCA)but potentially many other subtypes of retinal dystrophy(passive) caused byLCA)but potentially many other subtypes of retinal dystrophy

abnormal inclusion or exclusion of DNA in the coding sequence , resulting in an abnormal proteincauseabnormal inclusion or exclusion of DNA in the coding sequence , resulting in an abnormal protein

in putative null allelesresultingin putative null alleles

2002 Newfoundland rod - cone dystrophy , an early - onset retinal dystrophy(passive) is caused by2002 Newfoundland rod - cone dystrophy , an early - onset retinal dystrophy

in incorrect splicing of the mRNA which leads to either exon skipping or addition of extra region to the final productresultin incorrect splicing of the mRNA which leads to either exon skipping or addition of extra region to the final product

exon skipping and lead to the loss of RNA expression , which suggest that haploinsufficiency is the most likely underlying molecular mechanism.3 4can causeexon skipping and lead to the loss of RNA expression , which suggest that haploinsufficiency is the most likely underlying molecular mechanism.3 4

38 8 Newfoundland rod - cone dystrophy , an early - onset retinal dystrophy(passive) is caused by38 8 Newfoundland rod - cone dystrophy , an early - onset retinal dystrophy

potentially many other subtypes of retinal dystrophy ( show MERTK Antibodies(passive) caused bypotentially many other subtypes of retinal dystrophy ( show MERTK Antibodies

potentially many other subtypes of retinal dystrophy ( zeige MERTK Antikörper(passive) caused bypotentially many other subtypes of retinal dystrophy ( zeige MERTK Antikörper

to a limited array of products , including exon skipping , use of cryptic splice - acceptor or -donor sites , and intron inclusionleadto a limited array of products , including exon skipping , use of cryptic splice - acceptor or -donor sites , and intron inclusion

Mouse models of FVII deficiency(passive) caused byMouse models of FVII deficiency

potentially many other subtypes of retinal dystrophy ( zeige MERTK ELISA Kits(passive) caused bypotentially many other subtypes of retinal dystrophy ( zeige MERTK ELISA Kits

3 22 45 60 Newfoundland rod - cone dystrophy , an early - onset retinal dystrophy(passive) is caused by3 22 45 60 Newfoundland rod - cone dystrophy , an early - onset retinal dystrophy

3 23 41 54 Newfoundland rod - cone dystrophy , an early - onset retinal dystrophy(passive) is caused by3 23 41 54 Newfoundland rod - cone dystrophy , an early - onset retinal dystrophy

in truncation of translation ofresultingin truncation of translation of

numerous diseases and adverse drug reactionscausenumerous diseases and adverse drug reactions

mutation by which of the following mechanismscan causemutation by which of the following mechanisms

in in - frame deletion of exon 8 or 9 ( 22resultingin in - frame deletion of exon 8 or 9 ( 22

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