Varaico: Literature-Extracted Genetic Variants

Gene:MAN2B1
Variant:p.P277L
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MAN2B1

NM_000528.4:p.P277L

Associated Papers

Unveiling alpha-mannosidosis in Iraqi children: A series of clinically and genetically characterized cases with novel MAN2B1 variant.

Al Tai MR et al.

Molecular Genetics and Metabolism Reports, 2026

Outcome of Haemopoietic Stem Cell Transplantation in 21 Patients With Alpha-Mannosidosis.

Šáhó R et al.

Journal of Inherited Metabolic Disease, 2025

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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."