Varaico: Literature-Extracted Genetic Variants

Gene:TYR
Variant:p.C100W
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TYR

NM_000372.5:p.C100W

Associated Papers

Identification of 12 OCA Cases in Chinese Population and Two Novel Variants.

Zhong Z et al.

Frontiers in Genetics, 2022

35923705 (PubMed )
Supplement: DataSheet1.docx

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

Identification of Five Novel Variants in Chinese Oculocutaneous Albinism by Targeted Next-Generation Sequencing.

Qiu B et al.

Genetic Testing and Molecular Biomarkers, 2018

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

Ghodsinejad Kalahroudi V et al.

Plos One, 2014

A comprehensive analysis reveals mutational spectra and common alleles in Chinese patients with oculocutaneous albinism.

Wei A et al.

The Journal of Investigative Dermatology, 2010

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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."