Varaico: Literature-Extracted Genetic Variants

Gene:B4GALNT1
Variant:p.P453R
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B4GALNT1

NM_001478.5:p.P453R

Associated Papers

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

Welland JWJ et al.

Nature Communications, 2025

Febrile ataxia and myokymia broaden the SPG26 hereditary spastic paraplegia phenotype.

Dad R et al.

Neurology. Genetics, 2017

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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."