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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:HPS1

Variant:p.H119delFs

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HPS1

NM_000195.5:p.H119delFs

hg38:chr10:98435314 TG>T

Associated Papers

High-throughput microfluidic blood testing to phenotype genetically linked platelet disorders: an aid to diagnosis.

Fernandez DI et al.

Blood Advances, 2023

37389831 (PubMed )

Supplement: BLOODA_ADV-2023-009860-mmc1.pdf

Hermansky-Pudlak syndrome: Mutation update.

Huizing M et al.

Human Mutation, 2020

31898847 (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."