Varaico: Literature-Extracted Genetic Variants

Gene:AMN
Variant:p.Q248*
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AMN

NM_030943.4:p.Q248*

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

Luminal expression of cubilin is impaired in Imerslund-Grasbeck syndrome with compound AMN mutations in intron 3 and exon 7.

Namour F et al.

Haematologica, 2011

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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."