Varaico: Literature-Extracted Genetic Variants

Gene:MAN2A2
Variant:p.D289A
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MAN2A2

NM_006122.4:p.D289A

Associated Papers

Homozygous truncating variant in MAN2A2 causes a novel congenital disorder of glycosylation with neurological involvement.

Mahajan S et al.

Journal of Medical 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."