Varaico: Literature-Extracted Genetic Variants

Gene:MAN2B1
Variant:p.F208L
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MAN2B1

NM_000528.4:p.F208L

Associated Papers

Levodopa-Responsive Isolated Generalized Dystonia in a Patient with Alpha-Mannosidosis Due to a Novel Homozygous MAN2B1 Missense Variant-A Novel Association.

Holla VV et al.

Movement Disorders Clinical Practice, 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."