Varaico: Literature-Extracted Genetic Variants

Gene:HPGD
Variant:p.E40*
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HPGD

NM_000860.6:p.E40*

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 results in the unusual phenotype of palmoplantar keratoderma with digital clubbing and hyperhidrosis.

Stephan C et al.

Jaad Case Reports, 2018

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

Primary hypertrophic osteoarthropathy with digital clubbing and palmoplantar hyperhidrosis caused by 15-PGHD/HPGD loss-of-function mutations.

Bergmann C et al.

Experimental Dermatology, 2011

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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."