Varaico: Literature-Extracted Genetic Variants

Gene:TF
Variant:p.N630T
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TF

NM_001063.4:p.N630T

Associated Papers

A novel mutation on the transferrin gene abolishes one N-glycosylation site and alters the pattern of transferrin isoforms, mimicking that observed after excessive alcohol consumption.

Grahn A et al.

Clinical Biochemistry, 2016

It Is Not Always Alcohol Abuse--A Transferrin Variant Impairing the CDT Test.

Zühlsdorf A et al.

Alcohol and Alcoholism (oxford, Oxfordshire), 2016

Transferrin mutations at the glycosylation site complicate diagnosis of congenital disorders of glycosylation type I.

Guillard M et al.

Journal of Inherited Metabolic Disease, 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."