Varaico: Literature-Extracted Genetic Variants

Gene:CLRN1
Variant:p.I168N
Back to variants list

CLRN1

NM_174878.3:p.I168N

Associated Papers

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

Smirnov VM et al.

Investigative Ophthalmology & Visual Science, 2022

A biallelic variant in CLRN2 causes non-syndromic hearing loss in humans.

Vona B et al.

Human Genetics, 2021

Genetic Screening of the Usher Syndrome in Cuba.

Santana EE et al.

Frontiers in Genetics, 2019

Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss.

Sheppard S et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018

29907799 (PubMed )
Supplement: 41436_2018_4_MOESM3_ESM.xlsx › variant-_capture___coverage

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

García-García G et al.

Molecular Vision, 2012

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."