Varaico: Literature-Extracted Genetic Variants

Gene:CLRN1
Variant:p.L54P
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CLRN1

NM_174878.3:p.L54P

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

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

García-García G et al.

Molecular Vision, 2012

Disease-causing mutations in the CLRN1 gene alter normal CLRN1 protein trafficking to the plasma membrane.

Isosomppi J et al.

Molecular Vision, 2009

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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."