Varaico: Literature-Extracted Genetic Variants

Gene:SLC16A2
Variant:p.V485delFs
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SLC16A2

NM_006517.5:p.V485delFs

Associated Papers

Novel SLC16A2 Frameshift Mutation as a Cause of Allan-Herndon-Dudley Syndrome and its Implications for Carrier Screening.

Lin P et al.

Pharmacogenomics and Personalized Medicine, 2025

Identification of a novel nonsense SLC16A2 gene mutation in an infant with severe neurologic phenotype: A case report.

Peng W et al.

Medicine, 2024

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