Varaico: Literature-Extracted Genetic Variants

Gene:B3GALNT2
Variant:p.V103delFs
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B3GALNT2

NM_152490.5:p.V103delFs

Associated Papers

Expanding the Phenotype of B3GALNT2-Related Disorders.

D'haenens E et al.

Genes, 2022

Congenital muscular dystrophy caused by beta1,3-N-acetylgalactosaminyltransferase 2 gene mutation: Two case reports.

Wu WJ et al.

World Journal of Clinical Cases, 2022

Mutations in B3GALNT2 cause congenital muscular dystrophy and hypoglycosylation of α-dystroglycan.

Stevens E et al.

American Journal of Human Genetics, 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."