Varaico: Literature-Extracted Genetic Variants

Gene:ALPL
Variant:p.H496R
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ALPL

NM_000478.6:p.H496R

Associated Papers

The ALPL gene variant project: results of the first 100 reclassified variants.

Farman MR et al.

Jbmr Plus, 2025

Biochemical, clinical and genetic characteristics in adults with persistent hypophosphatasaemia; Data from an endocrinological outpatient clinic in Denmark.

Hepp N et al.

Bone Reports, 2021

Hypophosphatasia: is it an underdiagnosed disease even by expert physicians?

İnci A et al.

Journal of Bone and Mineral Metabolism, 2021

Multiple Fractures and Impaired Bone Fracture Healing in a Patient with Pycnodysostosis and Hypophosphatasia.

Hepp N et al.

Calcified Tissue International, 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."