Varaico: Literature-Extracted Genetic Variants

Gene:A4GALT
Variant:p.G14G
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A4GALT

NM_017436.7:p.G14G

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

Large deletions involving the regulatory upstream regions of A4GALT give rise to principally novel P1PK-null alleles.

Westman JS et al.

Transfusion, 2014

P1/P2 genotyping of known and novel null alleles in the P1PK and GLOB histo-blood group systems.

Westman JS et al.

Transfusion, 2013

Identification of a novel A4GALT exon reveals the genetic basis of the P1/P2 histo-blood groups.

Thuresson B et al.

Blood, 2011

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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."