Varaico: Literature-Extracted Genetic Variants

Gene:HPS6
Variant:p.Q505*
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HPS6

NM_024747.6:p.Q505*

Associated Papers

Hermansky-Pudlak syndrome: Mutation update.

Huizing M et al.

Human Mutation, 2020

Instability of BLOC-2 and BLOC-3 in Chinese patients with Hermansky-Pudlak syndrome.

Wei A et al.

Pigment Cell & Melanoma Research, 2019

Severe bleeding with subclinical oculocutaneous albinism in a patient with a novel HPS6 missense variant.

Han CG et al.

American Journal of Medical Genetics. Part A, 2018

NGS-based 100-gene panel of hypopigmentation identifies mutations in Chinese Hermansky-Pudlak syndrome patients.

Wei A et al.

Pigment Cell & Melanoma Research, 2016

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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."