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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TYRP1

Variant:p.R23delFs

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TYRP1

NM_000550.3:p.R23delFs

hg38:chr9:12694063 CG>C

Associated Papers

Clinical evaluation and molecular screening of a large consecutive series of albino patients.

Mauri L et al.

Journal of Human Genetics, 2017

27734839 (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."