Varaico: Literature-Extracted Genetic Variants

Gene:HPS6
Variant:p.V640delFs
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HPS6

NM_024747.6:p.V640delFs

Associated Papers

Hermansky-Pudlak syndrome: Mutation update.

Huizing M et al.

Human Mutation, 2020

Use of Targeted High-Throughput Sequencing for Genetic Classification of Patients with Bleeding Diathesis and Suspected Platelet Disorder.

Andres O et al.

Th Open : Companion Journal to Thrombosis and Haemostasis, 2018

A novel two-nucleotide deletion in HPS6 affects mepacrine uptake and platelet dense granule secretion in a family with Hermansky-Pudlak syndrome.

Andres O et al.

Pediatric Blood & Cancer, 2017

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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."