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Article

Identification of Novel Genomic-Variant Patterns of OR56A5, OR52L1, and CTSD in Retinitis Pigmentosa Patients by Whole-Exome Sequencing.

International journal of molecular sciences - 25 May 2021

Lin Ting-Yi, Chang Yun-Chia, Hsiao Yu-Jer, Chien Yueh, Jheng Ying-Chun, Wu Jing-Rong, Ching Lo-Jei, Hwang De-Kuang, Hsu Chih-Chien, Lin Tai-Chi, Chou Yu-Bai, Huang Yi-Ming, Chen Shih-Jen, Yang Yi-Ping, Tsai Ping-Hsing

Abstract excerpt

Inherited retinal dystrophies (IRDs) are rare but highly heterogeneous genetic disorders that affect individuals and families worldwide. However, given its wide variability, its analysis of the driver genes for over 50% of the cases remains unexplored. The present study aims to identify novel driver genes, disease-causing variants, and retinitis pigmentosa (RP)-associated pathways. Using family-based whole-exome...

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Identifiers

PMID: 34070492
DOI: 10.3390/ijms22115594
PMCID: PMC8198027

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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