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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SLCO6A1

Variant:p.K381_V384del4

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SLCO6A1

NM_173488.5:p.K381_V384del4

hg38:chr5:102438740 GCACTGGATTCTT>G

Associated Papers

Bi-allelic UGGT1 variants cause a congenital disorder of glycosylation.

Dardas Z et al.

American Journal of Human Genetics, 2025

40267907 (PubMed )

Supplement: mmc3.pdf

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