Comprehensive analysis of patients with Stargardt macular dystrophy reveals new genotype-phenotype correlations and unexpected diagnostic revisions

Comprehensive analysis of patients with Stargardt macular dystrophy reveals new genotype-phenotype correlations and unexpected diagnostic revisions

Item
http://www.wikidata.org/entity/Q35268851
Identification of Genetic Defects in 33 Probands with Stargardt Disease by WES-Based Bioinformatics Gene Panel AnalysisWhole Exome Sequencing Reveals Mutations in Known Retinal Disease Genes in 33 out of 68 Israeli Families with Inherited Retinopathies.Mutation Spectrum of the ABCA4 Gene in 335 Stargardt Disease Patients From a Multicenter German Cohort-Impact of Selected Deep Intronic Variants and Common SNPs.Leveraging splice-affecting variant predictors and a minigene validation system to identify Mendelian disease-causing variants among exon-captured variants of uncertain significance.In Silico Functional Meta-Analysis of 5,962 ABCA4 Variants in 3,928 Retinal Dystrophy Cases.Assessment of the incorporation of CNV surveillance into gene panel next-generation sequencing testing for inherited retinal diseases.Expanding the Mutation Spectrum in : Sixty Novel Disease Causing Variants and Their Associated Phenotype in a Large French Stargardt CohortSearching the second hit in patients with inherited retinal dystrophies and monoallelic variants in ABCA4, USH2A and CEP290 by whole-gene targeted sequencing
P2860

Comprehensive analysis of patients with Stargardt macular dystrophy reveals new genotype-phenotype correlations and unexpected diagnostic revisions

Item
http://www.wikidata.org/entity/Q35268851
description
2014 nî lūn-bûn
@nan
2014 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2014 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
2014年の論文
@ja
2014年論文
@yue
2014年論文
@zh-hant
2014年論文
@zh-hk
2014年論文
@zh-mo
2014年論文
@zh-tw
2014年论文
@wuu
name
Comprehensive analysis of pati ...... nexpected diagnostic revisions
@ast
Comprehensive analysis of pati ...... nexpected diagnostic revisions
@en
type
label
Comprehensive analysis of pati ...... nexpected diagnostic revisions
@ast
Comprehensive analysis of pati ...... nexpected diagnostic revisions
@en
prefLabel
Comprehensive analysis of pati ...... nexpected diagnostic revisions
@ast
Comprehensive analysis of pati ...... nexpected diagnostic revisions
@en
P1433
P1476
P2093
P2860
P2888
P304
P31
P356
P407
P433
P478
P50
P577
P698
P932
P356
P1433
P1476
Comprehensive analysis of pati ...... nexpected diagnostic revisions
@en
P2093
P2860
P2888
P304
P31
P356
P407
P433
P478
P50
P577
P698
P932