Varaico: Literature-Extracted Genetic Variants

Gene:HPGD
Variant:p.M1L
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HPGD

NM_000860.6:p.M1L

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

Workflow for the Implementation of Precision Genomics in Healthcare.

Mehandziska S et al.

Frontiers in Genetics, 2020

32695137 (PubMed )
Supplement: Data_Sheet_2.XLSX › Rare_diseases

A novel mutation in the HPGD gene causing primary hypertrophic osteoarthropathy with digital clubbing in a Pakistani family.

Khan AK et al.

Annals of Human Genetics, 2018

A novel recessive 15-hydroxyprostaglandin dehydrogenase mutation in a family with primary hypertrophic osteoarthropathy.

Erken E et al.

Modern Rheumatology, 2015

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

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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."