Varaico: Literature-Extracted Genetic Variants

Gene:ALPL
Variant:p.W186*
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ALPL

NM_000478.6:p.W186*

Associated Papers

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

Farman MR et al.

Jbmr Plus, 2025

Establishment of human periodontal ligament cell lines with ALPL mutations to mimic dental aspects of hypophosphatasia.

Schiffmaier J et al.

Frontiers in Cell and Developmental Biology, 2025

A novel de novo heterozygous ALPL nonsense mutation associated with adult hypophosphatasia.

Martins L et al.

Osteoporosis International : a Journal Established as Result of Cooperation Between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the Usa, 2020

Epidemiological, Clinical and Genetic Study of Hypophosphatasia in A Spanish Population: Identification of Two Novel Mutations in The Alpl Gene.

García-Fontana C et al.

Scientific Reports, 2019

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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."