Varaico: Literature-Extracted Genetic Variants

Gene:TF
Variant:p.E592A
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TF

NM_001063.4:p.E592A

Associated Papers

Transferrin gene polymorphisms alter the transferrin focusing pattern, making congenital disorder of glycosylation diagnosis difficult.

Lipiński P et al.

Acta Biochimica Polonica, 2021

Transferrin variants: pitfalls in the diagnostics of Congenital disorders of glycosylation.

Zühlsdorf A et al.

Clinical Biochemistry, 2015

The novel transferrin E592A variant impairs the diagnostics of congenital disorders of glycosylation.

Park JH et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2014

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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."