Varaico: Literature-Extracted Genetic Variants

Gene:GOLGA2
Variant:p.L89fs
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GOLGA2

NM_001366244.2:p.L89fs

Associated Papers

Loss of Enzyme Activity in Mutated B4GALNT1 Gene Products in Patients with Hereditary Spastic Paraplegia Results in Relatively Mild Neurological Disorders: Similarity with Phenotypes of B4galnt1 Knockout Mice.

Bhuiyan RH et al.

Neuroscience, 2019

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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."