Varaico: Literature-Extracted Genetic Variants

Gene:HPS3
Variant:p.C398Y
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HPS3

NM_032383.5:p.C398Y

Associated Papers

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

Fernandez DI et al.

Blood Advances, 2023

Hermansky-Pudlak Syndrome: Identification of Novel Variants in the Genes HPS3, HPS5, and DTNBP1 (HPS-7).

Boeckelmann D et al.

Frontiers in Pharmacology, 2021

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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."