Varaico: Literature-Extracted Genetic Variants

Gene:ALPL
Variant:p.H340Y
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ALPL

NM_000478.6:p.H340Y

Associated Papers

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

Farman MR et al.

Jbmr Plus, 2025

New insights into the landscape of ALPL gene variants in patients with hypophosphatasia from the Global HPP Registry.

Kishnani PS et al.

American Journal of Medical Genetics. Part A, 2024

Genotype-Phenotype Associations in 72 Adults with Suspected ALPL-Associated Hypophosphatasia.

Jandl NM et al.

Calcified Tissue International, 2021

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