Varaico: Literature-Extracted Genetic Variants

Gene:TSEN54
Variant:p.A307T
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TSEN54

NM_207346.3:p.A307T

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."