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: 636A>T

PubMed Link: 31199599

Variant Present in the following documents:

• Main text

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Comprehensive analysis of spectral distribution of a large cohort of Chinese patients with non-syndromic oculocutaneous albinism facilitates genetic diagnosis.

Pigment Cell & Melanoma Research

Zhong, Zilin Z; Gu, Li L; Zheng, Xiujie X; Ma, Nengjun N; Wu, Zehua Z; Duan, Juan J; Zhang, Jun J; Chen, Jianjun J

Publication Date: 2019-09

Variant appearance in text: TYR: 636A>T

PubMed Link: 31077556

Variant Present in the following documents:

• Main text
• PCMR-32-672.pdf

View BVdb publication page