Varaico: Literature-Extracted Genetic Variants

Gene:TYR
Variant:p.H363R
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TYR

NM_000372.5:p.H363R

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

Functional in silico analysis of human tyrosinase and OCA1 associated mutations.

Patel M et al.

Journal of Analytical & Pharmaceutical Research, 2020

Molecular genetic study of 59 Chinese Oculocutaneous albinism families.

Luo D et al.

European Journal of Medical Genetics, 2019

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

Qiu B et al.

Genetic Testing and Molecular Biomarkers, 2018

Computational analysis of histidine mutations on the structural stability of human tyrosinases leading to albinism insurgence.

Hassan M et al.

Molecular Biosystems, 2017

Prenatal genotyping of four common oculocutaneous albinism genes in 51 Chinese families.

Wei AH et al.

Journal of Genetics and Genomics = Yi Chuan Xue Bao, 2015

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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."