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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:HPS5

Variant:p.A676_K677delFs

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HPS5

NM_007216.4:p.A676_K677delFs

hg38:chr11:18291510 TTCGC>T

Associated Papers

Cellular and molecular defects in a patient with Hermansky-Pudlak syndrome type 5.

Stephen J et al.

Plos One, 2017

28296950 (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."