Varaico: Literature-Extracted Genetic Variants

Gene:HPGD
Variant:p.L108_V109Splc
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HPGD

NM_000860.6:p.L108_V109Splc

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

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

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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."