Varaico: Literature-Extracted Genetic Variants

Gene:MAN2B1
Variant:p.S801insFs
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MAN2B1

NM_001173498.2:p.S801insFs

Associated Papers

Exome sequence analysis identifies a homozygous, pathogenic, frameshift variant in the MAN2B1 gene underlying clinical variant of α-mannosidosis.

Hashmi JA et al.

Frontiers in Genetics, 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."