Varaico: Literature-Extracted Genetic Variants

Gene:ALPL
Variant:p.D60V
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ALPL

NM_000478.6:p.D60V

Associated Papers

Functional and In Silico Characterization of ALPL Gene Variants Reveals Genotype-Phenotype Correlations in Italian Hypophosphatasia Patients.

Casamassima G et al.

Cells, 2025

Systems Analysis Implicates WAVE2 Complex in the Pathogenesis of Developmental Left-Sided Obstructive Heart Defects.

Edwards JJ et al.

Jacc. Basic to Translational Science, 2020

32368696 (PubMed )
Supplement: mmc3.xlsx › Cases

Outcome of Teriparatide Treatment on Fracture Healing Complications and Symptomatic Bone Marrow Edema in Four Adult Patients With Hypophosphatasia.

Schmidt T et al.

Jbmr Plus, 2019

Efficacy of anti-sclerostin monoclonal antibody BPS804 in adult patients with hypophosphatasia.

Seefried L et al.

The Journal of Clinical Investigation, 2017

Novel ALPL genetic alteration associated with an odontohypophosphatasia phenotype.

Martins L et al.

Bone, 2013

[Molecular basis of hypophosphatasia].

Oda K

Seikagaku. the Journal of Japanese Biochemical Society, 2008

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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."