Varaico: Literature-Extracted Genetic Variants

Gene:A4GALT
Variant:p.V34I
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A4GALT

NM_017436.7:p.V34I

Associated Papers

A case report of a rare p phenotype individual and a review of molecular biological analysis of p phenotype in the Chinese population.

Wei X et al.

Transfusion Medicine (oxford, England), 2025

Novel A4GALT Variants Cause Rare p Phenotype and Recurrent Pregnancy Loss in a Chinese Individual.

Li G et al.

American Journal of Medical Genetics. Part A, 2025

Naturally occurring anti-PP1PK in a Chinese individual with p phenotype: A case based on compound heterozygosity including one novel allele.

Liang S et al.

Transfusion, 2022

RBCeq: A robust and scalable algorithm for accurate genetic blood typing.

Jadhao S et al.

Ebiomedicine, 2022

35033986 (PubMed )
Supplement: mmc3.xlsx › Supplementary_Table11

Human genetic disorders of sphingolipid biosynthesis.

Astudillo L et al.

Journal of Inherited Metabolic Disease, 2015

[Serological and genetic study of a pedigree featuring a rare p phenotype].

Wei L et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2012

Functional characterisation of a complex mutation in the α(1,4)galactosyltransferase gene in Taiwanese individuals with p phenotype.

Wang YC et al.

Transfusion Medicine (oxford, England), 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."