Varaico: Literature-Extracted Genetic Variants

Gene:AP3D1
Variant:p.A660fs
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AP3D1

NM_001261826.3:p.A660fs

Associated Papers

Genetics of non-syndromic and syndromic oculocutaneous albinism in human and mouse.

Fernández A et al.

Pigment Cell & Melanoma Research, 2021

Hermansky-Pudlak syndrome: Mutation update.

Huizing M et al.

Human Mutation, 2020

Biallelic mutations in AP3D1 cause Hermansky-Pudlak syndrome type 10 associated with immunodeficiency and seizure disorder.

Mohammed M et al.

European Journal of Medical Genetics, 2019

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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."