Varaico: Literature-Extracted Genetic Variants

Gene:ALPL
Variant:p.K322fs
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ALPL

NM_000478.6:p.K322fs

Associated Papers

Functional and In Silico Characterization of ALPL Gene Variants Reveals Genotype-Phenotype Correlations in Italian Hypophosphatasia Patients.

Casamassima G et al.

Cells, 2025

Safety and efficacy of long term asfotase alfa treatment in childhood hypophosphatasia.

d'Angelo DM et al.

Italian Journal of Pediatrics, 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."