Varaico: Literature-Extracted Genetic Variants

Gene:SLC16A2
Variant:p.E42*
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SLC16A2

NM_006517.5:p.E42*

Associated Papers

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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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."