Varaico: Literature-Extracted Genetic Variants

Gene:ALPL
Variant:p.N440del1
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ALPL

NM_000478.6:p.N440del1

Associated Papers

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

Molecular study of patients with odontohypophosphatasia resulting from missense mutation in ALPL.

Yue H et al.

Oral Diseases, 2024

Novel ALPL genetic alteration associated with an odontohypophosphatasia phenotype.

Martins L et al.

Bone, 2013

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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."