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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TYR

Variant:p.P412L

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TYR

NM_000372.5:p.P412L

hg38:chr11:89284823 C>T

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

Hermansky-Pudlak syndrome and oculocutaneous albinism in Chinese children with pigmentation defects and easy bruising.

Power B et al.

Orphanet Journal of Rare Diseases, 2019

30791930 (PubMed )

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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."