Varaico: Literature-Extracted Genetic Variants

Gene:ALPL
Variant:p.G221delFs
Back to variants list

ALPL

NM_000478.6:p.G221delFs

Associated Papers

Clinical and Genetic Characteristics of Pediatric Patients with Hypophosphatasia in the Russian Population.

Glotov OS et al.

International Journal of Molecular Sciences, 2022

Urine phosphoethanolamine is a specific biomarker for hypophosphatasia in adults.

Shajani-Yi Z et al.

Bone, 2022

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

Jandl NM et al.

Calcified Tissue International, 2021

Severe hypophosphatasia: characterization of fifteen novel mutations in the ALPL gene.

Spentchian M et al.

Human Mutation, 2003

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."