Varaico: Literature-Extracted Genetic Variants

Gene:PTH
Variant:p.H63D
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PTH

NM_000315.4:p.H63D

Associated Papers

Miscellaneous non-inflammatory musculoskeletal conditions. Bartter's and Gitelman's diseases.

Favero M et al.

Best Practice & Research. Clinical Rheumatology, 2011

The hand arthropathy of hereditary hemochromatosis is strongly associated with iron overload.

Valenti L et al.

The Journal of Rheumatology, 2008

Hemosiderosis and diabetes mellitus in an untransfused patient with hemoglobin H disease and H63D homozygous hereditary hemochromatosis.

Tsapas A et al.

Diabetes Research and Clinical Practice, 2007

HFE gene mutations and oxidative stress influence serum ferritin, associated with vascular damage, in hemodialysis patients.

Valenti L et al.

American Journal of Nephrology, 2007

Role of L-type Ca2+ channels in iron transport and iron-overload cardiomyopathy.

Oudit GY et al.

Journal of Molecular Medicine (berlin, Germany), 2006

Ankle and hindfoot arthropathy in hereditary hemochromatosis.

Schmid H et al.

The Journal of Rheumatology, 2003

Correlation of hemochromatosis gene mutations and cardiovascular disease in hemodialysis patients.

Bi M et al.

Annals of Saudi Medicine, 0

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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."