Matches in Nanopublications for { ?s ?p "[Our data a) Demonstrate that the unusual clinical presentation observed in our patient with a mild clinical onset evolving towards a more serious clinical picture, is associated to two novel mutations on CLCN7 gene. b) Support the already described clinical and molecular heterogeneity of the malignant osteopetrosis c) Suggest that, performing a molecular diagnosis of osteopetrosis with inconsistent clinical presentation these two novel mutations have to be first considered.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ?g. }
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- assertion description "[Our data a) Demonstrate that the unusual clinical presentation observed in our patient with a mild clinical onset evolving towards a more serious clinical picture, is associated to two novel mutations on CLCN7 gene. b) Support the already described clinical and molecular heterogeneity of the malignant osteopetrosis c) Suggest that, performing a molecular diagnosis of osteopetrosis with inconsistent clinical presentation these two novel mutations have to be first considered.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- NP1238630.RAFgORwj36JaLzhAM6qigG3rV8U475SWhMYhAMGQdacEo130_assertion description "[Our data a) Demonstrate that the unusual clinical presentation observed in our patient with a mild clinical onset evolving towards a more serious clinical picture, is associated to two novel mutations on CLCN7 gene. b) Support the already described clinical and molecular heterogeneity of the malignant osteopetrosis c) Suggest that, performing a molecular diagnosis of osteopetrosis with inconsistent clinical presentation these two novel mutations have to be first considered.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1238630.RAFgORwj36JaLzhAM6qigG3rV8U475SWhMYhAMGQdacEo130_provenance.