Varaico: Literature-Extracted Genetic Variants

Gene:B3GALNT2
Variant:p.T254_A255Splc
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B3GALNT2

NM_152490.5:p.T254_A255Splc

Associated Papers

Genetic disease risks of under-represented founder populations in New York City.

Isshiki M et al.

Plos Genetics, 2025

40554605 (PubMed )
Supplement: pgen.1011755.s006.xlsx › TableS2

Genetic disease risks of under-represented founder populations in New York City.

Isshiki M et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

39399040 (PubMed )
Supplement: media-1.xlsx › TableS2

Expanding the Phenotype of B3GALNT2-Related Disorders.

D'haenens E et al.

Genes, 2022

35456500 (PubMed )
Supplement: genes-13-00694-s001.zip › genes-1682179-supplementary.xlsx › ClinVar_path
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