Varaico: Literature-Extracted Genetic Variants

Gene:ALPL
Variant:p.R138Q
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ALPL

NM_000478.6:p.R138Q

Associated Papers

Prevalence of Monogenic Bone Disorders in a Dutch Cohort of Atypical Femur Fracture Patients.

Zhou W et al.

Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2023

37076969 (PubMed )
Supplement: JBMR-38-896-s002.xlsx › S.Table4

Large-scale in vitro functional testing and novel variant scoring via protein modeling provide insights into alkaline phosphatase activity in hypophosphatasia.

Del Angel G et al.

Human Mutation, 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."