Varaico: Literature-Extracted Genetic Variants

Gene:OCRL
Variant:p.I694V
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OCRL

NM_000276.4:p.I694V

Associated Papers

Evidence of maternal inheritance of Nizon-Isidor syndrome in an individual with GAMT and TNFRSF13B sequence variants.

Dutta D et al.

Journal of Human Genetics, 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."