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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SLC16A2

Variant:p.G474_D475del2

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SLC16A2

NM_006517.5:p.G474_D475del2

hg38:chrX:74531352 TGGGGAC>T

Associated Papers

MCT8 Deficiency in Infancy: Opportunities for Early Diagnosis and Screening.

Dubinski I et al.

International Journal of Neonatal Screening, 2025

40981297 (PubMed )

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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."