Varaico: Literature-Extracted Genetic Variants

Gene:ALPL
Variant:p.L520R
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ALPL

NM_000478.6:p.L520R

Associated Papers

Massive calcification around large joints in a patient subsequently diagnosed with adult-onset hypophosphatasia.

Koga M 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, 2022

Potential pathological role of single nucleotide polymorphism (c.787T>C) in alkaline phosphatase (ALPL) for the phenotypes of hypophosphatasia.

Matsuda N et al.

Endocrine Journal, 2020

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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."