Varaico: Literature-Extracted Genetic Variants

Gene:CBLIF
Variant:p.K145_N146del1
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CBLIF

NM_005142.3:p.K145_N146del1

Associated Papers

Genome and RNA sequencing in patients with methylmalonic aciduria of unknown cause.

Abdrabo LS et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 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

Gastric intrinsic factor deficiency with combined GIF heterozygous mutations and FUT2 secretor variant.

Chery C et al.

Biochimie, 2013

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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."