Functional classification of BRCA2 DNA variants by splicing assays in a large minigene with 9 exons
about
Functional classification of DNA variants by hybrid minigenes: Identification of 30 spliceogenic variants of BRCA2 exons 17 and 18.Functional analysis by minigene assay of putative splicing variants found in Bardet-Biedl syndrome patients.Adding In Silico Assessment of Potential Splice Aberration to the Integrated Evaluation of BRCA Gene Unclassified Variants.ABCA4 midigenes reveal the full splice spectrum of all reported noncanonical splice site variants in Stargardt disease.Gene panel sequencing in familial breast/ovarian cancer patients identifies multiple novel mutations also in genes others than BRCA1/2.Functional Analyses of a Novel Splice Variant in the CHD7 Gene, Found by Next Generation Sequencing, Confirm Its Pathogenicity in a Spanish Patient and Diagnose Him with CHARGE Syndrome.Identification of Eight Spliceogenic Variants in BRCA2 Exon 16 by Minigene Assays.Prevalence of deleterious mutations among patients with breast cancer referred for multigene panel testing in a Romanian population.Hereditary breast and ovarian cancer in Andalusian families: a genetic population study.
P2860
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P2860
Functional classification of BRCA2 DNA variants by splicing assays in a large minigene with 9 exons
description
2015 nî lūn-bûn
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2015 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
2015 թվականի փետրվարին հրատարակված գիտական հոդված
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2015年の論文
@ja
2015年論文
@yue
2015年論文
@zh-hant
2015年論文
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2015年論文
@zh-mo
2015年論文
@zh-tw
2015年论文
@wuu
name
Functional classification of B ...... a large minigene with 9 exons
@ast
Functional classification of B ...... a large minigene with 9 exons
@en
type
label
Functional classification of B ...... a large minigene with 9 exons
@ast
Functional classification of B ...... a large minigene with 9 exons
@en
prefLabel
Functional classification of B ...... a large minigene with 9 exons
@ast
Functional classification of B ...... a large minigene with 9 exons
@en
P2093
P2860
P356
P1433
P1476
Functional classification of B ...... a large minigene with 9 exons
@en
P2093
Alberto Acedo
Beatriz Díez-Gómez
Cristina Hernández-Moro
Álvaro Curiel-García
P2860
P304
P356
10.1002/HUMU.22725
P577
2015-02-01T00:00:00Z