Landscape of pathogenic variants in six pre‐mRNA processing factor genes for retinitis pigmentosa based on large in‐house data sets and database comparisons-Reference-Cited by-同舟云学术

Landscape of pathogenic variants in six pre‐mRNA processing factor genes for retinitis pigmentosa based on large in‐house data sets and database comparisons

Published:2022-02-09 Issue:7 Volume:100 Page:
ISSN:1755-375X
Container-title:Acta Ophthalmologica
language:en
Short-container-title:Acta Ophthalmologica

Author:

Wang Junwen¹,Xiao Xueshan¹,Li Shiqiang¹,Jiang Hongmei¹,Sun Wenmin¹^ORCID,Wang Panfeng¹^ORCID,Zhang Qingjiong¹^ORCID

Affiliation:

1. State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center Sun Yat‐sen University Guangzhou China

Funder

National Natural Science Foundation of China

Publisher

Wiley

Subject

Ophthalmology,General Medicine

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/aos.15104

Reference81 articles.

1. Targeted next generation sequencing for molecular diagnosis of Usher syndrome

2. Variability in gene-based knowledge impacts variant classification: an analysis of FBN1 missense variants in ClinVar

3. Next generation sequencing of pooled samples reveals new SNRNP200 mutations associated with retinitis pigmentosa

4. Spectral-Domain Optical Coherence Tomography Measures of Outer Segment Layer Progression in Patients With X-Linked Retinitis Pigmentosa

5. Identification of a novel pathogenic missense mutation in PRPF31 using whole exome sequencing: a case report

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