Varaico: Literature-Extracted Genetic Variants

Gene:HPGD
Variant:p.L59fs
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HPGD

NM_000860.6:p.L59fs

Associated Papers

Endocrine Alterations in Patients With Pachydermoperiostosis.

Stelmachowska-Banaś M et al.

The Journal of Clinical Endocrinology and Metabolism, 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

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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."