Varaico: Literature-Extracted Genetic Variants

Gene:HPS6
Variant:p.D80insFs
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HPS6

NM_024747.6:p.D80insFs

Associated Papers

Genotype-phenotype associations in Danish patients with ocular and oculocutaneous albinism.

Kessel L et al.

Ophthalmic Genetics, 2021

Hermansky-Pudlak syndrome: Mutation update.

Huizing M et al.

Human Mutation, 2020

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

Clinical and cellular characterisation of Hermansky-Pudlak syndrome type 6.

Huizing M et al.

Journal of Medical Genetics, 2009

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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."