Varaico: Literature-Extracted Genetic Variants

Gene:B3GALNT2
Variant:p.Y436C
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B3GALNT2

NM_152490.5:p.Y436C

Associated Papers

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

Fu X et al.

Journal of Neuromuscular Diseases, 2025

Compound heterozygous B3GALNT2 mutations in a fetus with encephalocele: A case report.

Ling D et al.

Clinical Case Reports, 2024

Expanding the Phenotype of B3GALNT2-Related Disorders.

D'haenens E et al.

Genes, 2022

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

Song D et al.

Clinical Genetics, 2021

Distinct Molecular Landscape of Epstein-Barr Virus Associated Pulmonary Lymphoepithelioma-Like Carcinoma Revealed by Genomic Sequencing.

Chau SL et al.

Cancers, 2020

32726920 (PubMed )
Supplement: cancers-12-02065-s001.zip › cancers-870865-supplementary_V2 › Supplementary_Tables_S1-S10.xlsx › Table_S4
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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."