Varaico: Literature-Extracted Genetic Variants

Gene:B3GALNT2
Variant:p.A16insFs
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B3GALNT2

NM_152490.5:p.A16insFs

Associated Papers

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

Fu X et al.

Journal of Neuromuscular Diseases, 2025

Genetic variations and clinical spectrum of dystroglycanopathy in a large cohort of Chinese patients.

Song D et al.

Clinical Genetics, 2021

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

Chen XY et al.

Chinese Medical Journal, 2020

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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."