Varaico: Literature-Extracted Genetic Variants

Gene:TYR
Variant:p.C103S
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TYR

NM_000372.5:p.C103S

Associated Papers

Whole-exome sequencing prioritizes candidate genes for hereditary cataract in the Emory mouse mutant.

Bennett TM et al.

G3 (bethesda, Md.), 2023

Genetics of non-syndromic and syndromic oculocutaneous albinism in human and mouse.

Fernández A et al.

Pigment Cell & Melanoma Research, 2021

The role of Abcb5 alleles in susceptibility to haloperidol-induced toxicity in mice and humans.

Zheng M et al.

Plos Medicine, 2015

25647612 (PubMed )
Supplement: pmed.1001782.s013.docx

Somatic mosaicism and allele complexity induced by CRISPR/Cas9 RNA injections in mouse zygotes.

Yen ST et al.

Developmental Biology, 2014

The severity of retinal degeneration in Rp1h gene-targeted mice is dependent on genetic background.

Liu Q et al.

Investigative Ophthalmology & Visual Science, 2009

New animal models to study the role of tyrosinase in normal retinal development.

Lavado A et al.

Frontiers in Bioscience : a Journal and Virtual Library, 2006

Identification and characterization of mouse Rab32 by mRNA and protein expression analysis.

Cohen-Solal KA et al.

Biochimica Et Biophysica Acta, 2003

Oculocutaneous albinism types 1 and 3 are ER retention diseases: mutation of tyrosinase or Tyrp1 can affect the processing of both mutant and wild-type proteins.

Toyofuku K et al.

Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 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."