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
Amnionless-mediated glycosylation is crucial for cell surface targeting of cubilin in renal and intestinal cells.
Udagawa T et al.
Scientific Reports, 2018
iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.
Wang M et al.
Scientific Reports, 2016
27527004 (PubMed )
Supplement: srep31321-s3.xls › NovelVar
Novel compound heterozygous mutations in AMN cause Imerslund-Gräsbeck syndrome in two half-sisters: a case report.
Montgomery E et al.
Bmc Medical Genetics, 2015
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