Varaico: Literature-Extracted Genetic Variants

Gene:HPGD
Variant:p.E40delFs
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HPGD

NM_000860.6:p.E40delFs

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

GeneScreen: a program for high-throughput mutation detection in DNA sequence electropherograms.

Carr IM et al.

Journal of Medical Genetics, 2011

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

Diggle CP et al.

Rheumatology (oxford, England), 2010

HPGD mutations cause cranioosteoarthropathy but not autosomal dominant digital clubbing.

Seifert W et al.

European Journal of Human Genetics : Ejhg, 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."