Varaico: Literature-Extracted Genetic Variants

Gene:B4GALNT1
Variant:p.D313N
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B4GALNT1

NM_001478.5:p.D313N

Associated Papers

Expanding the Clinical Spectrum of SPG26: A Case Report and Review of B4GALNT1-Associated Hereditary Spastic Paraplegia.

Giacomozzi S et al.

Movement Disorders Clinical Practice, 2025

When ganglioside pathways go awry: congenital disorders and experimental insights.

Inamori KI et al.

Journal of Human Genetics, 2025

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

Clinically significant missense variants in human GALNT3, GALNT8, GALNT12, and GALNT13 genes: intriguing in silico findings.

Hussain MRM et al.

Journal of Cellular Biochemistry, 2014

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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."