Varaico: Literature-Extracted Genetic Variants

Gene:HAMP
Variant:p.P51P
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HAMP

NM_021175.4:p.P51P

Associated Papers

Investigating the Hepcidin Gene Polymorphisms in COVID-19-Associated Mucormycosis Susceptibility: A Clinical-Laboratory Study.

Ravanbakhsh R et al.

Iranian Journal of Medical Sciences, 2024

Hepcidin gene polymorphisms and iron overload in β-thalassemia major patients refractory to iron chelating therapy.

Zarghamian P et al.

Bmc Medical Genetics, 2020

Inherited or acquired modifiers of iron status may dramatically affect the phenotype in dehydrated hereditary stomatocytosis.

Orvain C et al.

European Journal of Haematology, 2018

Role of HAMP Genetic Variants on Pathophysiology of Iron Deficiency Anemia.

Pandey S et al.

Indian Journal of Clinical Biochemistry : Ijcb, 2018

The role of genetic factors in patients with hepatocellular carcinoma and iron overload - a prospective series of 234 patients.

Funakoshi N et al.

Liver International : Official Journal of the International Association for the Study of the Liver, 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

Genetic study of the hepcidin gene (HAMP) promoter and functional analysis of the c.-582A > G variant.

Parajes S et al.

Bmc Genetics, 2010

HAMP promoter mutation nc.-153C>T in non p.C282Y homozygous patients with iron overload.

Aguilar-Martinez P et al.

Haematologica, 2010

A novel XIAP mutation in a Japanese boy with recurrent pancytopenia and splenomegaly.

Zhao M et al.

Haematologica, 2010

HAMP promoter mutation nc.-153C>T in 785 HEIRS study participants.

Barton JC et al.

Haematologica, 2009

A new mutation in the hepcidin promoter impairs its BMP response and contributes to a severe phenotype in HFE related hemochromatosis.

Island ML et al.

Haematologica, 2009

Hereditary hemochromatosis: insights from the Hemochromatosis and Iron Overload Screening (HEIRS) Study.

McLaren GD et al.

Hematology. American Society of Hematology. Education Program, 2009

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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."