Dominant PRPF31 mutations are hypostatic to a recessive CNOT3 polymorphism in retinitis pigmentosa: a novel phenomenon of "linked trans-acting epistasis".
about
Precision Medicine for Continuing Phenotype Expansion of Human Genetic Diseases.Modeling of autosomal-dominant retinitis pigmentosa in Caenorhabditis elegans uncovers a nexus between global impaired functioning of certain splicing factors and cell type-specific apoptosis.Transcriptional regulation of PRPF31 gene expression by MSR1 repeat elements causes incomplete penetrance in retinitis pigmentosa.Autosomal recessive retinitis pigmentosa with homozygous rhodopsin mutation E150K and non-coding cis-regulatory variants in CRX-binding regions of SAMD7Characterization of macular structure and function in two Swedish families with genetically identified autosomal dominant retinitis pigmentosaWhole exome sequencing of a dominant retinitis pigmentosa family identifies a novel deletion in PRPF31Variant haploinsufficiency and phenotypic non-penetrance in PRPF31-associated retinitis pigmentosa.A large family with inherited optic disc anomalies: a correlation between a new genetic locus and complex ocular phenotypesA novel mutation in PRPF31, causative of autosomal dominant retinitis pigmentosa, using the BGISEQ-500 sequencer.The Genetic Basis of Pericentral Retinitis Pigmentosa-A Form of Mild Retinitis Pigmentosa.
P2860
Q35763184-03D94707-B6E7-49F6-A9C5-23BBE74D5600Q36286487-12486C61-623B-424F-9CB6-3FBB847F0CFDQ36499782-A49E3616-2E65-4066-BE9D-BA920D306635Q36592020-BCD38E10-FF1B-4370-8A23-6FBD7CA2FDC6Q36881449-EE36B928-5429-4703-A0F6-CD14B327564FQ37691934-5A0EE1D3-36CB-45A3-AB3D-131C7A1F1BE8Q38725572-B251E6DB-25F8-45E0-91A6-4AB99F9808FCQ41354427-F6F20FDB-5999-4A1E-A880-64BC0224FD6EQ47555652-95F3EB05-DA45-4D3D-9070-1CD3CB30E0B7Q47858818-A7758481-8368-4B5F-9BEB-EF6DB5B2D1F4
P2860
Dominant PRPF31 mutations are hypostatic to a recessive CNOT3 polymorphism in retinitis pigmentosa: a novel phenomenon of "linked trans-acting epistasis".
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2013 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2013 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
2013年の論文
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2013年論文
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2013年論文
@zh-hant
2013年論文
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2013年論文
@zh-mo
2013年論文
@zh-tw
2013年论文
@wuu
name
Dominant PRPF31 mutations are ...... inked trans-acting epistasis".
@ast
Dominant PRPF31 mutations are ...... inked trans-acting epistasis".
@en
Dominant PRPF31 mutations are ...... inked trans-acting epistasis".
@nl
type
label
Dominant PRPF31 mutations are ...... inked trans-acting epistasis".
@ast
Dominant PRPF31 mutations are ...... inked trans-acting epistasis".
@en
Dominant PRPF31 mutations are ...... inked trans-acting epistasis".
@nl
prefLabel
Dominant PRPF31 mutations are ...... inked trans-acting epistasis".
@ast
Dominant PRPF31 mutations are ...... inked trans-acting epistasis".
@en
Dominant PRPF31 mutations are ...... inked trans-acting epistasis".
@nl
P2093
P2860
P356
P1476
Dominant PRPF31 mutations are ...... inked trans-acting epistasis".
@en
P2093
Amna Z Shah
Anna M Rose
Geoffrey E Rose
Giulia Venturini
Shomi S Bhattacharya
P2860
P356
10.1111/AHG.12042
P407
P577
2013-10-14T00:00:00Z