Varaico: Literature-Extracted Genetic Variants

Gene:HPS4
Variant:p.Q625H
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HPS4

NM_022081.6:p.Q625H

Associated Papers

Comprehensive analysis of oculocutaneous albinism among non-Hispanic caucasians shows that OCA1 is the most prevalent OCA type.

Hutton SM et al.

The Journal of Investigative Dermatology, 2008

A comprehensive genetic study of autosomal recessive ocular albinism in Caucasian patients.

Hutton SM et al.

Investigative Ophthalmology & Visual Science, 2008

Hermansky-Pudlak syndrome: a disease of protein trafficking and organelle function.

Wei ML

Pigment Cell Research, 2006

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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."