Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1238630.RAFgORwj36JaLzhAM6qigG3rV8U475SWhMYhAMGQdacEo130_assertion> ?p ?o ?g. }
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- NP1238630.RAFgORwj36JaLzhAM6qigG3rV8U475SWhMYhAMGQdacEo130_assertion type Assertion NP1238630.RAFgORwj36JaLzhAM6qigG3rV8U475SWhMYhAMGQdacEo130_head.
- 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.
- NP1238630.RAFgORwj36JaLzhAM6qigG3rV8U475SWhMYhAMGQdacEo130_assertion evidence source_evidence_literature NP1238630.RAFgORwj36JaLzhAM6qigG3rV8U475SWhMYhAMGQdacEo130_provenance.
- NP1238630.RAFgORwj36JaLzhAM6qigG3rV8U475SWhMYhAMGQdacEo130_assertion SIO_000772 25410126 NP1238630.RAFgORwj36JaLzhAM6qigG3rV8U475SWhMYhAMGQdacEo130_provenance.
- NP1238630.RAFgORwj36JaLzhAM6qigG3rV8U475SWhMYhAMGQdacEo130_assertion wasDerivedFrom befree-2016 NP1238630.RAFgORwj36JaLzhAM6qigG3rV8U475SWhMYhAMGQdacEo130_provenance.
- NP1238630.RAFgORwj36JaLzhAM6qigG3rV8U475SWhMYhAMGQdacEo130_assertion wasGeneratedBy ECO_0000203 NP1238630.RAFgORwj36JaLzhAM6qigG3rV8U475SWhMYhAMGQdacEo130_provenance.