Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP734443.RAwSG2VBJFIPEDJopUBPX88f94Xb7UbsejvlyD2eNC3qs130_assertion> ?p ?o ?g. }
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- NP734443.RAwSG2VBJFIPEDJopUBPX88f94Xb7UbsejvlyD2eNC3qs130_assertion type Assertion NP734443.RAwSG2VBJFIPEDJopUBPX88f94Xb7UbsejvlyD2eNC3qs130_head.
- NP734443.RAwSG2VBJFIPEDJopUBPX88f94Xb7UbsejvlyD2eNC3qs130_assertion description "[Heterozygosity for mutations in the TGFBR1 or TGFBR2 genes cause Loeys-Dietz syndrome (LDS) types 2A and 2B that overlap with MFS1 in their clinical features.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP734443.RAwSG2VBJFIPEDJopUBPX88f94Xb7UbsejvlyD2eNC3qs130_provenance.
- NP734443.RAwSG2VBJFIPEDJopUBPX88f94Xb7UbsejvlyD2eNC3qs130_assertion evidence source_evidence_literature NP734443.RAwSG2VBJFIPEDJopUBPX88f94Xb7UbsejvlyD2eNC3qs130_provenance.
- NP734443.RAwSG2VBJFIPEDJopUBPX88f94Xb7UbsejvlyD2eNC3qs130_assertion SIO_000772 19159394 NP734443.RAwSG2VBJFIPEDJopUBPX88f94Xb7UbsejvlyD2eNC3qs130_provenance.
- NP734443.RAwSG2VBJFIPEDJopUBPX88f94Xb7UbsejvlyD2eNC3qs130_assertion wasDerivedFrom befree-20150227 NP734443.RAwSG2VBJFIPEDJopUBPX88f94Xb7UbsejvlyD2eNC3qs130_provenance.
- NP734443.RAwSG2VBJFIPEDJopUBPX88f94Xb7UbsejvlyD2eNC3qs130_assertion wasGeneratedBy ECO_0000203 NP734443.RAwSG2VBJFIPEDJopUBPX88f94Xb7UbsejvlyD2eNC3qs130_provenance.