Varaico: Literature-Extracted Genetic Variants

Gene:HAMP
Variant:p.C78Y
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HAMP

NM_021175.4:p.C78Y

Associated Papers

HAMP Gene Mutation Associated with Juvenile Hemochromatosis in Brazilian Patients.

Fonseca PF et al.

Acta Haematologica, 2016

Identification of a novel mutation in the HAMP gene that causes non-detectable hepcidin molecules in a Japanese male patient with juvenile hemochromatosis.

Hattori A et al.

Blood Cells, Molecules & Diseases, 2012

A homozygous HAMP mutation in a multiply consanguineous family with pseudo-dominant juvenile hemochromatosis.

Delatycki MB et al.

Clinical Genetics, 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."