Varaico: Literature-Extracted Genetic Variants

Gene:OCA2
Variant:p.R167C
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OCA2

NM_000275.3:p.R167C

Associated Papers

Biallelic pathogenic hydroxymethylbilane synthase gene variants of a neurodegenerative disorder with progressive cystic leukoencephalopathy: a case report.

Schacht G et al.

Journal of Medical Case Reports, 2026

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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."