Varaico: Literature-Extracted Genetic Variants

Gene:OCA2
Variant:p.N442del1
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OCA2

NM_000275.3:p.N442del1

Associated Papers

Abnormal foveal morphology in carriers of oculocutaneous albinism.

Kuht HJ et al.

The British Journal of Ophthalmology, 2023

35379600 (PubMed )
Supplement: bjophthalmol-2020-318192supp001.pdf

Identification of 12 OCA Cases in Chinese Population and Two Novel Variants.

Zhong Z et al.

Frontiers in Genetics, 2022

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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."