Varaico: Literature-Extracted Genetic Variants

Gene:HPGD
Variant:p.V78_H81Fs
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HPGD

NM_000860.6:p.V78_H81Fs

Associated Papers

Clinical and biochemical characteristics of 12 Chinese primary hypertrophic osteoarthropathy patients with HPGD mutations.

Lu Q et al.

International Journal of Biological Sciences, 2022

Common and recurrent HPGD mutations in Caucasian individuals with primary hypertrophic osteoarthropathy.

Diggle CP et al.

Rheumatology (oxford, England), 2010

Homozygous mutations in the 15-hydroxyprostaglandin dehydrogenase gene in patients with primary hypertrophic osteoarthropathy.

Yüksel-Konuk B et al.

Rheumatology International, 2009

Mutation in the HPGD gene encoding NAD+ dependent 15-hydroxyprostaglandin dehydrogenase underlies isolated congenital nail clubbing (ICNC).

Tariq M et al.

Journal of Medical Genetics, 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."