Varaico: Literature-Extracted Genetic Variants

Gene:HPS1
Variant:p.P629delFs
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HPS1

NM_000195.5:p.P629delFs

Associated Papers

Hermansky-Pudlak syndrome: Mutation update.

Huizing M et al.

Human Mutation, 2020

Hermansky-Pudlak syndrome: pigmentary and non-pigmentary defects and their pathogenesis.

Wei AH et al.

Pigment Cell & Melanoma Research, 2013

Implementation of an optimized strategy for genetic testing of the Chinese patients with oculocutaneous albinism.

Wei A et al.

Journal of Dermatological Science, 2011

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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."