Varaico: Literature-Extracted Genetic Variants

Gene:SCN3A
Variant:p.K1506delFs
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SCN3A

NM_006922.4:p.K1506delFs

Associated Papers

Neurodevelopmental disorder in a patient with HMBS and SCN3A variants-A possibly blended phenotype further delineating autosomal recessive HMBS related disease.

M K et al.

American Journal of Medical Genetics. Part A, 2024

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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."