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Article

Identification of novel variants in retinitis pigmentosa genes by whole-exome sequencing.

Revista da Associacao Medica Brasileira (1992) - 1 Jan 2023

Kocaaga Ayca, Aköz İrem Öztürk, Demir Nihal Ulus, Paksoy Bariş

Abstract excerpt

OBJECTIVE: Retinitis pigmentosa is an inherited degenerative disorder causing severe retinal dystrophy and visual impairment, mainly with onset in the first or second decades. The next-generation sequencing has become an efficient tool to identify disease-causing mutations in retinitis pigmentosa. The aim of this retrospective study was to investigate novel gene variants and evaluate the utility of whole-exome...

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Identifiers

PMID: 37222315
DOI: 10.1590/1806-9282.20221073
PMCID: PMC10204840

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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