Varaico: Literature-Extracted Genetic Variants

Gene:HPGD
Variant:p.L108_V109Splc
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HPGD

NM_000860.6:p.L108_V109Splc

Associated Papers

Two cases of primary hypertrophic osteoarthropathy caused by HPGD variants: a case report and literature review.

Li J et al.

Bmc Pediatrics, 2025

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

Lu Q et al.

International Journal of Biological Sciences, 2022

Targeted exome sequencing identified a novel mutation hotspot and a deletion in Chinese primary hypertrophic osteoarthropathy patients.

Chen Y et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2018

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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."