Varaico: Literature-Extracted Genetic Variants

Gene:AMN
Variant:p.G254E
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AMN

NM_030943.4:p.G254E

Associated Papers

Imerslund-Gräsbeck syndrome in a child with a novel compound heterozygous mutations in the AMN gene: a case report.

Zhang D et al.

Italian Journal of Pediatrics, 2024

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

Proteinuria as a presenting sign of combined methylmalonic acidemia and homocysteinemia: case report.

Chen RY et al.

Bmc Medical Genetics, 2020

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

Tanner SM et al.

Orphanet Journal of Rare Diseases, 2012

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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."