Varaico: Literature-Extracted Genetic Variants

Gene:CUBN
Variant:p.I410_D411Splc
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CUBN

NM_001081.4:p.I410_D411Splc

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

Clinical and genetic characterization of a cohort of proteinuric patients with biallelic CUBN variants.

Domingo-Gallego A et al.

Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2022

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

Tanner SM et al.

Orphanet Journal of Rare Diseases, 2012

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

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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."