Varaico: Literature-Extracted Genetic Variants

Gene:B3GALNT2
Variant:p.P474del1
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B3GALNT2

NM_152490.5:p.P474del1

Associated Papers

Pathogenic mechanisms and clinical insights into B3GALNT2-related alpha-dystroglycanopathies.

Fu X et al.

Journal of Neuromuscular Diseases, 2025

Expanding the Phenotype of B3GALNT2-Related Disorders.

D'haenens E et al.

Genes, 2022

Novel mutations in B3GALNT2 gene causing α-dystroglycanopathy in Chinese patients.

Chen XY et al.

Chinese Medical Journal, 2020

The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cao Y et al.

Cell Research, 2020

32355288 (PubMed )
Supplement: 41422_2020_322_MOESM14_ESM.xlsx › S7

Clinical, genetic and neuropathological findings in a series of 138 fetuses with a corpus callosum malformation.

Alby C et al.

Birth Defects Research. Part A, Clinical and Molecular Teratology, 2016

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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."