Varaico: Literature-Extracted Genetic Variants

Gene:A4GALT
Variant:p.K115delFs
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A4GALT

NM_017436.7:p.K115delFs

Associated Papers

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

Deletion in the A4GALT Gene Associated with Rare "P null" Phenotype: The First Report from India.

Shastry S et al.

Transfusion Medicine and Hemotherapy : Offizielles Organ Der Deutschen Gesellschaft Fur Transfusionsmedizin Und Immunhamatologie, 2020

A novel mutation in A4GALT was identified in a Chinese individual with p phenotype.

Li X et al.

Transfusion, 2017

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