Varaico: Literature-Extracted Genetic Variants

Gene:ALPL
Variant:p.A345V
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ALPL

NM_000478.6:p.A345V

Associated Papers

Markedly discordant hypophosphatasia in a young girl.

Prakash V et al.

Bone, 2025

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

Pediatric hypophosphatasia: avoid diagnosis missteps!

Whyte MP et al.

Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2024

Molecular Diagnoses of X-Linked and Other Genetic Hypophosphatemias: Results From a Sponsored Genetic Testing Program.

Rush ET et al.

Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2022

34633109 (PubMed )
Supplement: JBMR-37-202-s001.xlsx › Supplemental_Table_2
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