Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP610627.RAqAK9RCk7lRTkOIOHm_oZHCZLBgUpdMnLYSAgMRUc_JI130_assertion> ?p ?o ?g. }
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- NP610627.RAqAK9RCk7lRTkOIOHm_oZHCZLBgUpdMnLYSAgMRUc_JI130_assertion type Assertion NP610627.RAqAK9RCk7lRTkOIOHm_oZHCZLBgUpdMnLYSAgMRUc_JI130_head.
- NP610627.RAqAK9RCk7lRTkOIOHm_oZHCZLBgUpdMnLYSAgMRUc_JI130_assertion wasGeneratedBy ECO_0000203 NP610627.RAqAK9RCk7lRTkOIOHm_oZHCZLBgUpdMnLYSAgMRUc_JI130_provenance.
- NP610627.RAqAK9RCk7lRTkOIOHm_oZHCZLBgUpdMnLYSAgMRUc_JI130_assertion wasDerivedFrom befree-20150227 NP610627.RAqAK9RCk7lRTkOIOHm_oZHCZLBgUpdMnLYSAgMRUc_JI130_provenance.
- NP610627.RAqAK9RCk7lRTkOIOHm_oZHCZLBgUpdMnLYSAgMRUc_JI130_assertion SIO_000772 23227268 NP610627.RAqAK9RCk7lRTkOIOHm_oZHCZLBgUpdMnLYSAgMRUc_JI130_provenance.
- NP610627.RAqAK9RCk7lRTkOIOHm_oZHCZLBgUpdMnLYSAgMRUc_JI130_assertion evidence source_evidence_literature NP610627.RAqAK9RCk7lRTkOIOHm_oZHCZLBgUpdMnLYSAgMRUc_JI130_provenance.
- NP610627.RAqAK9RCk7lRTkOIOHm_oZHCZLBgUpdMnLYSAgMRUc_JI130_assertion description "[A spontaneous novel mutation in COL1A2 (c.1171G>A; p.Gly391Ser) causing only dentin defects and a novel mutation in PAX9 (c.43T>A; p.Phe15Ile) causing hypodontia were identified and correlated with the phenotypic presentations in the family.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP610627.RAqAK9RCk7lRTkOIOHm_oZHCZLBgUpdMnLYSAgMRUc_JI130_provenance.