Varaico: Literature-Extracted Genetic Variants

Gene:B3GALNT1
Variant:p.Y140*
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B3GALNT1

NM_003781.4:p.Y140*

Associated Papers

Multiple miscarriages in two sisters of Thai origin with the rare Pk phenotype caused by a novel nonsense mutation at the B3GALNT1 locus.

Ricci Hagman J et al.

Transfusion Medicine (oxford, England), 2019

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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."