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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:B3GALT6

Variant:p.Y218F

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B3GALT6

NM_080605.4:p.Y218F

hg38:chr1:1232931 A>T

Associated Papers

Serum bikunin isoforms in congenital disorders of glycosylation and linkeropathies.

Haouari W et al.

Journal of Inherited Metabolic Disease, 2020

32700771 (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."