Varaico: Literature-Extracted Genetic Variants

Gene:TYR
Variant:p.R77L
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TYR

NM_000372.5:p.R77L

Associated Papers

Retinal Pigment Epithelium-Targeting Gene Therapy Corrects Ocular Symptoms in Mouse and Rat Models of Oculocutaneous Albinism Type I.

Song L et al.

Medcomm, 2025

Albino mice with the point mutation at the tyrosinase locus show high cholesterol diet-induced NASH susceptibility.

Kulathunga K et al.

Scientific Reports, 2021

Oculocutaneous albinism type 1: link between mutations, tyrosinase conformational stability, and enzymatic activity.

Dolinska MB et al.

Pigment Cell & Melanoma Research, 2017

Novel Hypomorphic Alleles of the Mouse Tyrosinase Gene Induced by CRISPR-Cas9 Nucleases Cause Non-Albino Pigmentation Phenotypes.

Challa AK et al.

Plos One, 2016

Nitisinone improves eye and skin pigmentation defects in a mouse model of oculocutaneous albinism.

Onojafe IF et al.

The Journal of Clinical Investigation, 2011

Genetic analyses of fancy rat-derived mutations.

Kuramoto T et al.

Experimental Animals, 2010

Genetic context determines susceptibility to intraocular pressure elevation in a mouse pigmentary glaucoma.

Anderson MG et al.

Bmc Biology, 2006

The Tyr (albino) locus of the laboratory mouse.

Beermann F et al.

Mammalian Genome : Official Journal of the International Mammalian Genome Society, 2004

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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."