Varaico: Literature-Extracted Genetic Variants

Gene:P4HTM
Variant:p.E312K
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P4HTM

NM_177939.3:p.E312K

Associated Papers

Novel compound heterozygous P4HTM variants in a girl with developmental and epileptic encephalopathy: First case report of P4HTM variant-associated epileptic encephalopathy.

Alomarı O et al.

Seizure, 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."