Varaico: Literature-Extracted Genetic Variants

Gene:B4GALNT2
Variant:p.P40H
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B4GALNT2

NM_001159387.2:p.P40H

Associated Papers

Missense mutations in the C-terminal portion of the B4GALNT2-encoded glycosyltransferase underlying the Sd(a-) phenotype.

Stenfelt L et al.

Biochemistry and Biophysics Reports, 2019

31367682 (PubMed )
Supplement: mmc1.pdf

Whole exome sequencing in three families segregating a pediatric case of sarcoidosis.

Calender A et al.

Bmc Medical Genomics, 2018

29510755 (PubMed )
Supplement: 12920_2018_338_MOESM6_ESM.xlsx › Feuil3
Select a paper to view details
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