Varaico: Literature-Extracted Genetic Variants

Gene:CBLIF
Variant:p.N54fs
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CBLIF

NM_005142.3:p.N54fs

Associated Papers

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

Tanner SM et al.

Orphanet Journal of Rare Diseases, 2012

Hereditary juvenile cobalamin deficiency caused by mutations in the intrinsic factor gene.

Tanner SM et al.

Proceedings of the National Academy of Sciences of the United States of America, 2005

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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."