Varaico: Literature-Extracted Genetic Variants

Gene:OCA2
Variant:p.D160H
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OCA2

NM_000275.3:p.D160H

Associated Papers

Updated Analysis of Albinism in Japan: 290 Families With Novel Pathological Variants.

Okamura K et al.

Pigment Cell & Melanoma Research, 2025

Comprehensive analysis of spectral distribution of a large cohort of Chinese patients with non-syndromic oculocutaneous albinism facilitates genetic diagnosis.

Zhong Z et al.

Pigment Cell & Melanoma Research, 2019

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

Wei A et al.

Journal of Dermatological Science, 2011

A comprehensive analysis reveals mutational spectra and common alleles in Chinese patients with oculocutaneous albinism.

Wei A et al.

The Journal of Investigative Dermatology, 2010

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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."