Varaico: Literature-Extracted Genetic Variants

Gene:OCA2
Variant:p.M318I
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OCA2

NM_000275.3:p.M318I

Associated Papers

Curation of OCA2 Variants of Uncertain Significance From Chinese Oculocutaneous Albinism Patients Based on Multiplex Assays.

Yang Q et al.

Pigment Cell & Melanoma Research, 2025

Identifying genetic defects in oculocutaneous albinism patients of West Bengal, Eastern India.

Dutta T et al.

Molecular Biology Reports, 2024

Novel compound heterozygous mutations in OCA2 gene were identified in a Chinese family with oculocutaneous albinism.

Jiang B et al.

Molecular Genetics & Genomic Medicine, 2024

37882226 (PubMed )
Supplement: MGG3-12-e2297-s002.xlsx › Supplementary_Table_2

Clinical and Mutation Spectrum of Autosomal Recessive Non-Syndromic Oculocutaneous Albinism (nsOCA) in Pakistan: A Review.

Ullah MI

Genes, 2022

Genetic Causes of Oculocutaneous Albinism in Pakistani Population.

Sajid Z et al.

Genes, 2021

Molecular outcomes, clinical consequences, and genetic diagnosis of Oculocutaneous Albinism in Pakistani population.

Shahzad M et al.

Scientific Reports, 2017

28266639 (PubMed )
Supplement: srep44185-s1.pdf

Molecular basis of albinism in India: evaluation of seven potential candidate genes and some new findings.

Mondal M et al.

Gene, 2012

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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."