Varaico: Literature-Extracted Genetic Variants

Gene:B4GALT1
Variant:p.V138Splc
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B4GALT1

NM_001497.4:p.V138Splc

Associated Papers

COG Complex in Golgi Trafficking and Glycosylation.

Sumya FT et al.

Sub-cellular Biochemistry, 2026

Congenital disorders of N-glycosylation including diseases associated with O- as well as N-glycosylation defects.

Leroy JG

Pediatric Research, 2006

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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."