Varaico: Literature-Extracted Genetic Variants

Gene:CBLIF
Variant:p.A229T
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CBLIF

NM_005142.3:p.A229T

Associated Papers

Diagnosing childhood-onset inborn errors of metabolism by next-generation sequencing.

Ghosh A et al.

Archives of Disease in Childhood, 2017

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

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

Tanner SM et al.

Orphanet Journal of Rare Diseases, 2012

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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."