Varaico: Literature-Extracted Genetic Variants

Gene:AMN
Variant:p.G5delFs
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AMN

NM_030943.4:p.G5delFs

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

Amnionless, essential for mouse gastrulation, is mutated in recessive hereditary megaloblastic anemia.

Tanner SM et al.

Nature Genetics, 2003

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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."