Varaico: Literature-Extracted Genetic Variants

Gene:OPHN1
Variant:p.R497Q
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OPHN1

NM_002547.3:p.R497Q

Associated Papers

Exome Sequencing of Consanguineous Pashtun Families With Familial Epilepsy Reveals Causative and Candidate Variants in TSEN54, MOCS2, and OPHN1.

Khan A et al.

Clinical Genetics, 2025

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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."