Varaico: Literature-Extracted Genetic Variants

Gene:CLRN1
Variant:p.P31L
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CLRN1

NM_174878.3:p.P31L

Associated Papers

A Leaky Deep Intronic Splice Variant in CLRN1 Is Associated with Non-Syndromic Retinitis Pigmentosa.

Elasal MA et al.

Genes, 2024

A systematic review of inherited retinal dystrophies in Pakistan: updates from 1999 to April 2023.

Munir A et al.

Bmc Ophthalmology, 2024

Retinal Phenotype of Patients with CLRN1-Associated Usher 3A Syndrome in French Light4Deaf Cohort.

Smirnov VM et al.

Investigative Ophthalmology & Visual Science, 2022

The molecular basis of retinal dystrophies in pakistan.

Khan MI et al.

Genes, 2014

Two novel disease-causing mutations in the CLRN1 gene in patients with Usher syndrome type 3.

García-García G et al.

Molecular Vision, 2012

CLRN1 mutations cause nonsyndromic retinitis pigmentosa.

Khan MI et al.

Ophthalmology, 2011

Hypomorphic variants in inherited retinal and ocular diseases: A review of the literature with clinical cases.

Thuma TBT et al.

Survey of Ophthalmology, 0

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."