Publications:

Mutational Analysis of TYR, OCA2, and SLC45A2 Genes in Chinese Families with Oculocutaneous Albinism.

Molecular Genetics & Genomic Medicine

Lin, Ye Y; Chen, Xihui X; Yang, Ying Y; Che, Fengyu F; Zhang, Sijia S; Yuan, Lijuan L; Wu, Yuanming Y

Publication Date: 2019-07

Variant appearance in text: TYR: 1106A>G

PubMed Link: 31199599

Variant Present in the following documents:

• Main text
• MGG3-7-e00687.pdf

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Dynamic analysis of human tyrosinase intra-melanosomal domain and mutant variants to further understand oculocutaneous albinism type 1.

Journal Of Analytical & Pharmaceutical Research

Farney, S Katie SK; Dolinska, Monika B MB; Sergeev, Yuri V YV

Publication Date: 2018

Variant appearance in text: OCAIA: Y369C

PubMed Link: 30868138

Variant Present in the following documents:

• Main text
• nihms-1008828.pdf

View BVdb publication page