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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MAN2B1

Variant:p.E323K

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MAN2B1

NM_000528.4:p.E323K

hg38:chr19:12661319 C>T

Associated Papers

Long-term clinical evaluation of patients with alpha-mannosidosis - A multicenter study.

Köse E et al.

European Journal of Medical Genetics, 2024

38382588 (PubMed )

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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."