Varaico: Literature-Extracted Genetic Variants

Gene:AMN
Variant:p.G5fs
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AMN

NM_030943.4:p.G5fs

Associated Papers

Imerslund-Gräsbeck syndrome: a comprehensive review of reported cases.

Kingma SDK et al.

Orphanet Journal of Rare Diseases, 2023

37710296 (PubMed )
Supplement: 13023_2023_2889_MOESM2_ESM.xlsx › Tabel_artikel

Inherited cobalamin malabsorption. Mutations in three genes reveal functional and ethnic patterns.

Tanner SM et al.

Orphanet Journal of Rare Diseases, 2012

Juvenile selective vitamin B₁₂ malabsorption: 50 years after its description-10 years of genetic testing.

Gräsbeck R et al.

Pediatric Research, 2011

Genetically heterogeneous selective intestinal malabsorption of vitamin B12: founder effects, consanguinity, and high clinical awareness explain aggregations in Scandinavia and the Middle East.

Tanner SM et al.

Human Mutation, 2004

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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."