Associated Papers
Musculoskeletal and neurocognitive clinical significance of adult hypophosphatasia.
Kim SM et al.
Osteoporosis and Sarcopenia, 2023
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
Interrogating Mutant Allele Expression via Customized Reference Genomes to Define Influential Cancer Mutations.
Grant AD et al.
Scientific Reports, 2019
31484939 (PubMed )
Supplement: 41598_2019_48967_MOESM2_ESM.xls › Supplementary_Variant_File
Molecular and clinical analysis of ALPL in a cohort of patients with suspicion of Hypophosphatasia.
Tenorio J et al.
American Journal of Medical Genetics. Part A, 2017
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