Varaico: Literature-Extracted Genetic Variants

Gene:OCA2
Variant:p.I646_H647insFs
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OCA2

NM_000275.3:p.I646_H647insFs

Associated Papers

Novel human pathological mutations. Gene symbol: OCA2. Disease: albinism, oculocutaneous II.

Ray K et al.

Human Genetics, 2010

Novel human pathological mutations. Gene symbol: OCA2. Disease: albinism, oculocutaneous II.

Ray K et al.

Human Genetics, 2010

Novel human pathological mutations. Gene symbol: OCA2. Disease: albinism, oculocutaneous II.

Renugadevi K et al.

Human Genetics, 2009

P gene mutations associated with oculocutaneous albinism type II (OCA2).

Oetting WS et al.

Human Mutation, 2005

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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."