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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:HPS1

Variant:p.T489_A490insFs

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HPS1

NM_000195.5:p.T489_A490insFs

hg38:chr10:98423818 T>TA

Associated Papers

Tyrosinase gene mutations in oculocutaneous albinism 1 (OCA1): definition of the phenotype.

King RA et al.

Human Genetics, 2003

13680365 (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."