Varaico: Literature-Extracted Genetic Variants

Gene:ALPL
Variant:p.S364fs
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ALPL

NM_000478.6:p.S364fs

Associated Papers

Clinical application of expanded carrier screening based on next-generation sequencing in the Chinese population.

Lu J et al.

Archives of Gynecology and Obstetrics, 2025

ALPL mutations in adults with rheumatologic disorders and low serum alkaline phosphatase activity.

Rauch F et al.

Journal of Bone and Mineral Metabolism, 2019

Molecular and clinical analysis of ALPL in a cohort of patients with suspicion of Hypophosphatasia.

Tenorio J et al.

American Journal of Medical Genetics. Part A, 2017

Clinical, biochemical and genetic spectrum of low alkaline phosphatase levels in adults.

Riancho-Zarrabeitia L et al.

European Journal of Internal Medicine, 2016

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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."