Variant haploinsufficiency and phenotypic non-penetrance in PRPF31-associated retinitis pigmentosa.
about
Novel Candidate Genes and a Wide Spectrum of Structural and Point Mutations Responsible for Inherited Retinal Dystrophies Revealed by Exome SequencingMutations in Splicing Factor Genes Are a Major Cause of Autosomal Dominant Retinitis Pigmentosa in Belgian FamiliesGenetic modifiers as relevant biological variables of eye disorders.The phenotypic variability of HK1-associated retinal dystrophy.A novel mutation in PRPF31, causative of autosomal dominant retinitis pigmentosa, using the BGISEQ-500 sequencer.Assessment of the incorporation of CNV surveillance into gene panel next-generation sequencing testing for inherited retinal diseases.Mechanisms of Mendelian dominance.A new approach based on targeted pooled DNA sequencing identifies novel mutations in patients with Inherited Retinal Dystrophies
P2860
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P2860
Variant haploinsufficiency and phenotypic non-penetrance in PRPF31-associated retinitis pigmentosa.
description
2016 nî lūn-bûn
@nan
2016年の論文
@ja
2016年論文
@yue
2016年論文
@zh-hant
2016年論文
@zh-hk
2016年論文
@zh-mo
2016年論文
@zh-tw
2016年论文
@wuu
2016年论文
@zh
2016年论文
@zh-cn
name
Variant haploinsufficiency and ...... sociated retinitis pigmentosa.
@en
type
label
Variant haploinsufficiency and ...... sociated retinitis pigmentosa.
@en
prefLabel
Variant haploinsufficiency and ...... sociated retinitis pigmentosa.
@en
P2860
P356
P1433
P1476
Variant haploinsufficiency and ...... sociated retinitis pigmentosa.
@en
P2093
S S Bhattacharya
P2860
P304
P356
10.1111/CGE.12758
P50
P577
2016-02-08T00:00:00Z