Varaico: Literature-Extracted Genetic Variants

Gene:OCA2
Variant:p.I722T
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OCA2

NM_000275.3:p.I722T

Associated Papers

Multigene panel sequencing of established and candidate melanoma susceptibility genes in a large cohort of Dutch non-CDKN2A/CDK4 melanoma families.

Potjer TP et al.

International Journal of Cancer, 2019

30414346 (PubMed )
Supplement: IJC-144-2453-s001.doc

Computational screening of disease-associated mutations in OCA2 gene.

Kamaraj B et al.

Cell Biochemistry and Biophysics, 2014

P gene as an inherited biomarker of human eye color.

Rebbeck TR et al.

Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology, 2002

Identification of P gene mutations in individuals with oculocutaneous albinism in sub-Saharan Africa.

Kerr R et al.

Human Mutation, 2000

Hypopigmentation in the Prader-Willi syndrome correlates with P gene deletion but not with haplotype of the hemizygous P allele.

Spritz RA et al.

American Journal of Medical Genetics, 1997

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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."