Varaico: Literature-Extracted Genetic Variants

Gene:ALPL
Variant:p.N393S
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ALPL

NM_000478.6:p.N393S

Associated Papers

Genetic skeletal disorders: phenotypic-genotypic characteristics and RhGH therapy responses of a pediatric cohort.

Huang Y et al.

Scientific Reports, 2025

40596606 (PubMed )
Supplement: 41598_2025_7570_MOESM6_ESM.pdf

Case Report: Variations in the ALPL Gene in Chinese Patients With Hypophosphatasia.

Zhang Q et al.

Frontiers in Genetics, 2021

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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."