Varaico: Literature-Extracted Genetic Variants

Gene:H6PD
Variant:p.H63D
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H6PD

NM_004285.4:p.H63D

Associated Papers

Genetic Variation and Sickle Cell Disease Severity: A Systematic Review and Meta-Analysis.

Kirkham JK et al.

Jama Network Open, 2023

37851445 (PubMed )
Supplement: jamanetwopen-e2337484-s001.pdf

Iron overload in congenital haemolytic anaemias: role of hepcidin and cytokines and predictive value of ferritin and transferrin saturation.

Barcellini W et al.

British Journal of Haematology, 2019

Development and performance of a comprehensive targeted sequencing assay for pan-ethnic screening of carrier status.

Tanner AK et al.

The Journal of Molecular Diagnostics : Jmd, 2014

Iron overload in a teenager with xerocytosis: the importance of nuclear magnetic resonance imaging.

Assis RA et al.

Einstein (sao Paulo, Brazil), 2013

CLIA-tested genetic variants on commercial SNP arrays: potential for incidental findings in genome-wide association studies.

Johnson AD et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2010

Liver cirrhosis as a consequence of iron overload caused by hereditary nonspherocytic hemolytic anemia.

Hilgard P et al.

World Journal of Gastroenterology, 2005

The HFE Cys282Tyr mutation as a necessary but not sufficient cause of clinical hereditary hemochromatosis.

Beutler E

Blood, 2003

Iron deficiency and overload.

Beutler E et al.

Hematology. American Society of Hematology. Education Program, 2003

A previously undescribed nonsense mutation of the HFE gene.

Beutler E et al.

Clinical Genetics, 2002

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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."