Varaico: Literature-Extracted Genetic Variants

Gene:B4GALNT1
Variant:p.A441E
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B4GALNT1

NM_001478.5:p.A441E

Associated Papers

Characterization of Human Recombinant β1,4-GalNAc-Transferase B4GALNT1 and Inhibition by Selected Compounds.

Abidi I et al.

Molecules (basel, Switzerland), 2025

Conformational dynamics and membrane insertion mechanism of B4GALNT1 in ganglioside synthesis.

Welland JWJ et al.

Nature Communications, 2025

40593514 (PubMed )
Supplement: 41467_2025_60593_MOESM1_ESM.pdf

Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.

Zhi Y et al.

Cns Neuroscience & Therapeutics, 2025

39932116 (PubMed )
Supplement: CNS-31-e70260-s001.xlsx › SPG26

Functional evaluation of novel variants of B4GALNT1 in a patient with hereditary spastic paraplegia and the general population.

Inamori KI et al.

Frontiers in Neuroscience, 2024

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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."