Varaico: Literature-Extracted Genetic Variants

Gene:SRRM2
Variant:p.Q1554L
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SRRM2

NM_016333.4:p.Q1554L

Associated Papers

Rare SRRM2 mutation in neurodevelopmental disorders involving hyperphagia triggering severe obesity and other complication.

Chang SH et al.

Frontiers in Medicine, 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."