Varaico: Literature-Extracted Genetic Variants

Gene:CHTOP
Variant:p.R22H
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CHTOP

NM_015607.4:p.R22H

Associated Papers

Diagnostic Utility of Exome Data Reanalysis After In Silico Multi-Gene Panels or Clinical Exome Testing for Patients With Epilepsy and Developmental Delay/Intellectual Disability: A Retrospective Cohort Study.

Cuillerier A et al.

Clinical 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."