Varaico: Literature-Extracted Genetic Variants

Gene:CLRN1
Variant:p.N202K
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CLRN1

NM_174878.3:p.N202K

Associated Papers

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

Elasal MA et al.

Genes, 2024

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

Smirnov VM et al.

Investigative Ophthalmology & Visual Science, 2022

Usher syndrome IIIA: a review of the disorder and preclinical research advances in therapeutic approaches.

Marouf A et al.

Human Genetics, 2022

iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Wang M et al.

Scientific Reports, 2016

27527004 (PubMed )
Supplement: srep31321-s3.xls › NovelVar
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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."