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Fig. 4 | BMC Musculoskeletal Disorders

Fig. 4

From: Diagnostic delay is common among patients with hypophosphatasia: initial findings from a longitudinal, prospective, global registry

Fig. 4

Frequency of ALPL pathogenic variants. Pathogenic variants were categorized using the definitions from Sequence Ontology [40]. Figure reports the percentages of the total number of pathogenic variants reported (n = 218). aOther includes structural variant (n = 2), synonymous variant (n = 2), and missense variant/splice region variant (n = 1)

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