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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:HPS6

Variant:p.P361delFs

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HPS6

NM_024747.6:p.P361delFs

hg38:chr10:102066552 GC>G

Associated Papers

Hermansky-Pudlak syndrome (HPS5) in a nonagenarian.

Ringeisen AL et al.

Journal of Aapos : the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus, 2013

23607980 (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."