Varaico: Literature-Extracted Genetic Variants

Gene:CLRN1
Variant:p.D55delFs
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CLRN1

NM_174878.3:p.D55delFs

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

Retinal disease in Usher syndrome III caused by mutations in the clarin-1 gene.

Herrera W et al.

Investigative Ophthalmology & Visual Science, 2008

[Molecular genetics of Usher syndrome].

Tazetdinov AM et al.

Genetika, 2008

Audiological and vestibular features in affected subjects with USH3: a genotype/phenotype correlation.

Sadeghi M et al.

International Journal of Audiology, 2005

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

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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."