Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP763937.RANVITiGrnxeqpQLs-e6LHEzvWiPvutWoiRPqKiqvYrxI130_assertion> ?p ?o ?g. }
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- NP763937.RANVITiGrnxeqpQLs-e6LHEzvWiPvutWoiRPqKiqvYrxI130_assertion type Assertion NP763937.RANVITiGrnxeqpQLs-e6LHEzvWiPvutWoiRPqKiqvYrxI130_head.
- NP763937.RANVITiGrnxeqpQLs-e6LHEzvWiPvutWoiRPqKiqvYrxI130_assertion wasGeneratedBy ECO_0000203 NP763937.RANVITiGrnxeqpQLs-e6LHEzvWiPvutWoiRPqKiqvYrxI130_provenance.
- NP763937.RANVITiGrnxeqpQLs-e6LHEzvWiPvutWoiRPqKiqvYrxI130_assertion wasDerivedFrom befree-2016 NP763937.RANVITiGrnxeqpQLs-e6LHEzvWiPvutWoiRPqKiqvYrxI130_provenance.
- NP763937.RANVITiGrnxeqpQLs-e6LHEzvWiPvutWoiRPqKiqvYrxI130_assertion SIO_000772 19762329 NP763937.RANVITiGrnxeqpQLs-e6LHEzvWiPvutWoiRPqKiqvYrxI130_provenance.
- NP763937.RANVITiGrnxeqpQLs-e6LHEzvWiPvutWoiRPqKiqvYrxI130_assertion evidence source_evidence_literature NP763937.RANVITiGrnxeqpQLs-e6LHEzvWiPvutWoiRPqKiqvYrxI130_provenance.
- NP763937.RANVITiGrnxeqpQLs-e6LHEzvWiPvutWoiRPqKiqvYrxI130_assertion description "[LEMD3 haploinsufficiency and point mutations have been previously associated with osteopoikilosis but radiographs of our patient at the age of 16 years did not reveal any hint for osteopoikilosis lesions.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP763937.RANVITiGrnxeqpQLs-e6LHEzvWiPvutWoiRPqKiqvYrxI130_provenance.