Varaico: Literature-Extracted Genetic Variants

Gene:MAN2B1
Variant:p.G146Splc
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MAN2B1

NM_000528.4:p.G146Splc

Associated Papers

Prenatal Diagnosis of c.437-1G>A Mutation in the MAN2B1 Gene in a Family With Alpha-Mannosidosis: Unraveling Clinical Presentation and Treatment Outcomes in a Novel Prenatal Case.

AlAnzi T et al.

Cureus, 2024

Carrier frequency and incidence of alpha-mannosidosis: population database-based study-focus on the East Asian and Korean population.

Park JE et al.

Frontiers in Genetics, 2023

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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."