Varaico: Literature-Extracted Genetic Variants

Gene:B4GALT1
Variant:p.S116*
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B4GALT1

NM_001497.4:p.S116*

Associated Papers

Rare in Rare: Overlapping Clinical Features in a Patient With Both Gaucher Disease Type 1 and B4GALT-CDG: Expanding the Clinical Spectrum With a Novel Pathogenic Variant.

Ersoy M et al.

Clinical Genetics, 2025

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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."