Associated Papers
Dissecting mutational allosteric effects in alkaline phosphatases associated with different Hypophosphatasia phenotypes: An integrative computational investigation.
Xiao F et al.
Plos Computational Biology, 2022
35320273 (PubMed )
Supplement: pcbi.1010009.s009.xlsx › Sheet1
Clinical significance of genetic variation in hypertrophic cardiomyopathy: comparison of computational tools to prioritize missense variants.
Barbosa P et al.
Frontiers in Cardiovascular Medicine, 2022
36061567 (PubMed )
Supplement: Table_1.XLSX › Table_S6
Pediatric hypophosphatasia: lessons learned from a retrospective single-center chart review of 50 children.
Vogt M et al.
Orphanet Journal of Rare Diseases, 2020
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
32160374 (PubMed )
Supplement: HUMU-41-1250-s002.xlsx › Supplemental_table_2
Identification of a molecular defect in a stillborn fetus with perinatal lethal hypophosphatasia using a disease-associated genome sequencing approach.
Olech EM et al.
Polish Journal of Pathology : Official Journal of the Polish Society of Pathologists, 2016
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