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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:LIPH

Variant:p.D229insFs

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LIPH

NM_139248.3:p.D229insFs

hg38:chr3:185524102 A>ATGAACAC

Associated Papers

Identification of two novel mutations in a Japanese patient with Hermansky-Pudlak syndrome type 5.

Saito T et al.

The Journal of Dermatology, 2020

32881069 (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."