Varaico: Literature-Extracted Genetic Variants

Gene:CLRN1
Variant:p.D55fs
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CLRN1

NM_174878.3:p.D55fs

Associated Papers

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

Marouf A et al.

Human Genetics, 2022

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

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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."