Varaico: Literature-Extracted Genetic Variants

Gene:CLRN1
Variant:p.N100K
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CLRN1

NM_174878.3:p.N100K

Associated Papers

A Genomic Analysis of Usher Syndrome: Population-Scale Prevalence and Therapeutic Targets.

Redfield SE et al.

American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2025

A Genomic Analysis of Usher Syndrome: Population-Scale Prevalence and Therapeutic Targets.

Redfield SE et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

Usher syndrome type III: revised genomic structure of the USH3 gene and identification of novel mutations.

Fields RR et al.

American Journal of Human Genetics, 2002

Database for the mutations of the Finnish disease heritage.

Sipilä K et al.

Human Mutation, 2002

Mutations in a novel gene with transmembrane domains underlie Usher syndrome type 3.

Joensuu T et al.

American Journal of Human Genetics, 2001

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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."