Varaico: Literature-Extracted Genetic Variants

Gene:USH1C
Variant:p.L48P
Back to variants list

USH1C

NM_153676.4:p.L48P

Associated Papers

Usher Syndrome: Genetics and Molecular Links of Hearing Loss and Directions for Therapy.

Whatley M et al.

Frontiers in Genetics, 2020

An update on the genetics of usher syndrome.

Millán JM et al.

Journal of Ophthalmology, 2011

Novel mutations of MYO7A and USH1G in Israeli Arab families with Usher syndrome type 1.

Rizel L et al.

Molecular Vision, 2011

[Molecular genetics of Usher syndrome].

Tazetdinov AM et al.

Genetika, 2008

Review of Genotype-Phenotype Correlations in Usher Syndrome.

Nisenbaum E et al.

Ear and Hearing, 0

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."