Varaico: Literature-Extracted Genetic Variants

Gene:B3GALNT1
Variant:p.D150G
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B3GALNT1

NM_003781.4:p.D150G

Associated Papers

iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Wang M et al.

Scientific Reports, 2016

27527004 (PubMed )
Supplement: srep31321-s3.xls › NovelVar

Identification of the Molecular and Genetic Basis of PX2, a Glycosphingolipid Blood Group Antigen Lacking on Globoside-deficient Erythrocytes.

Westman JS et al.

The Journal of Biological Chemistry, 2015

Human genetic disorders of sphingolipid biosynthesis.

Astudillo L et al.

Journal of Inherited Metabolic Disease, 2015

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

Westman JS et al.

Transfusion, 2013

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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."