Varaico: Literature-Extracted Genetic Variants

Gene:USH1C
Variant:p.K12_V13Splc
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USH1C

NM_153676.4:p.K12_V13Splc

Associated Papers

Alternative splicing and retinal degeneration.

Liu MM et al.

Clinical Genetics, 2013

[Molecular genetics of Usher syndrome].

Tazetdinov AM et al.

Genetika, 2008

Nonsyndromic recessive deafness DFNB18 and Usher syndrome type IC are allelic mutations of USHIC.

Ahmed ZM et al.

Human Genetics, 2002

Identification of three novel mutations in the USH1C gene and detection of thirty-one polymorphisms used for haplotype analysis.

Zwaenepoel I et al.

Human Mutation, 2001

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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."