Varaico: Literature-Extracted Genetic Variants

Gene:HPGD
Variant:p.L104fs
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HPGD

NM_000860.6:p.L104fs

Associated Papers

Genetic Diseases Mimicking Rheumatic Disorders: Insights From Southeastern Turkey.

Akalın A et al.

American Journal of Medical Genetics. Part A, 2025

Insights into Natural History, Phenotypic, and Molecular Spectrum in a Large Cohort of Osteosclerotic Disorders.

Uludağ Alkaya D et al.

Calcified Tissue International, 2025

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

Li J et al.

Bmc Pediatrics, 2025

Analysis of genetic testing in fetuses with congenital heart disease of single atria and/or single ventricle in a Chinese prenatal cohort.

Li M et al.

Bmc Pediatrics, 2023

Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project.

Cong PK et al.

Nature Communications, 2022

35618720 (PubMed )
Supplement: 41467_2022_30526_MOESM5_ESM.xlsx › Data_2

Compound Heterozygous Pathogenic Variants of the 15-Hydroxyprostaglandin Dehydrogenase Gene in a Patient With Hypertrophic Osteoarthropathy: First Case in Korea.

Ryu MR et al.

Annals of Laboratory Medicine, 2019

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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."