Varaico: Literature-Extracted Genetic Variants

Gene:TYR
Variant:p.R52K
Back to variants list

TYR

NM_000372.5:p.R52K

Associated Papers

Identification and Computational Analysis of Novel TYR and SLC45A2 Gene Mutations in Pakistani Families With Identical Non-syndromic Oculocutaneous Albinism.

Bibi N et al.

Frontiers in Genetics, 2020

32849781 (PubMed )
Supplement: Data_Sheet_2.docx

Two novel tyrosinase (TYR) gene mutations with pathogenic impact on oculocutaneous albinism type 1 (OCA1).

Ghodsinejad Kalahroudi V et al.

Plos One, 2014

Mutation spectrum of the TYR and SLC45A2 genes in patients with oculocutaneous albinism.

Ko JM et al.

Molecular Medicine Reports, 2012

Molecular analysis of Korean patients with oculocutaneous albinism.

Park SH et al.

Japanese Journal of Ophthalmology, 2012

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."