Varaico: Literature-Extracted Genetic Variants

Gene:CBLIF
Variant:p.Q23R
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CBLIF

NM_005142.3:p.Q23R

Associated Papers

Homologous G776G Variant of Transcobalamin-II Gene is Linked to Vitamin B12 Deficiency.

Al-Batayneh KM et al.

International Journal for Vitamin and Nutrition Research. Internationale Zeitschrift Fur Vitamin- Und Ernahrungsforschung. Journal International De Vitaminologie Et De Nutrition, 2020

Biochemical and Hematologic Manifestations of Gastric Intrinsic Factor (GIF) Deficiency: A Treatable Cause of B12 Deficiency in the Old Order Mennonite Population of Southwestern Ontario.

Ferrand A et al.

Jimd Reports, 2015

Role of (Glu --> Arg, Q5R) mutation of the intrinsic factor in pernicious anemia and other causes of low vitamin B12.

Remacha AF et al.

Annals of Hematology, 2008

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

A genetic polymorphism in the coding region of the gastric intrinsic factor gene (GIF) is associated with congenital intrinsic factor deficiency.

Gordon MM 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."