Varaico: Literature-Extracted Genetic Variants

Gene:CUBN
Variant:p.D872delFs
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CUBN

NM_001081.4:p.D872delFs

Associated Papers

Imerslund-Gräsbeck syndrome: a comprehensive review of reported cases.

Kingma SDK et al.

Orphanet Journal of Rare Diseases, 2023

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

Tanner SM et al.

Orphanet Journal of Rare Diseases, 2012

Ancient founder mutation is responsible for Imerslund-Gräsbeck Syndrome among diverse ethnicities.

Beech CM et al.

Orphanet Journal of Rare Diseases, 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."