Varaico: Literature-Extracted Genetic Variants

Gene:HTT
Variant:p.S93L
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HTT

NM_001388492.1:p.S93L

Associated Papers

Expanding the Molecular and Clinical Phenotype of Patients With De Novo Variants in KIF5C: A Six Patient Case Series.

Gracie S et al.

American Journal of Medical Genetics. Part A, 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."