Varaico: Literature-Extracted Genetic Variants

Gene:AMN
Variant:p.R171_T172Splc
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AMN

NM_030943.4:p.R171_T172Splc

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

Imerslund-Gräsbeck Syndrome in an Infant with a Novel Intronic Variant in the AMN Gene: A Case Report.

Pacitto A et al.

International Journal of Molecular Sciences, 2019

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