Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP216894.RASHHFmsPVfccOO9gcjCZDtMkiQp3BgxBdsH9JCQTTrI0130_assertion> ?p ?o ?g. }
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- NP216894.RASHHFmsPVfccOO9gcjCZDtMkiQp3BgxBdsH9JCQTTrI0130_assertion type Assertion NP216894.RASHHFmsPVfccOO9gcjCZDtMkiQp3BgxBdsH9JCQTTrI0130_head.
- NP216894.RASHHFmsPVfccOO9gcjCZDtMkiQp3BgxBdsH9JCQTTrI0130_assertion description "[We found three novel mutations (S277X in the EXT1 gene, and G194X and 939+1G > A in the EXT2 gene) and a known mutation (Q172X in the EXT2 gene) in hereditary multiple exostoses]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP216894.RASHHFmsPVfccOO9gcjCZDtMkiQp3BgxBdsH9JCQTTrI0130_provenance.
- NP216894.RASHHFmsPVfccOO9gcjCZDtMkiQp3BgxBdsH9JCQTTrI0130_assertion evidence source_evidence_literature NP216894.RASHHFmsPVfccOO9gcjCZDtMkiQp3BgxBdsH9JCQTTrI0130_provenance.
- NP216894.RASHHFmsPVfccOO9gcjCZDtMkiQp3BgxBdsH9JCQTTrI0130_assertion SIO_000772 16638657 NP216894.RASHHFmsPVfccOO9gcjCZDtMkiQp3BgxBdsH9JCQTTrI0130_provenance.
- NP216894.RASHHFmsPVfccOO9gcjCZDtMkiQp3BgxBdsH9JCQTTrI0130_assertion wasDerivedFrom lhgdn-20090331 NP216894.RASHHFmsPVfccOO9gcjCZDtMkiQp3BgxBdsH9JCQTTrI0130_provenance.
- NP216894.RASHHFmsPVfccOO9gcjCZDtMkiQp3BgxBdsH9JCQTTrI0130_assertion wasGeneratedBy ECO_0000203 NP216894.RASHHFmsPVfccOO9gcjCZDtMkiQp3BgxBdsH9JCQTTrI0130_provenance.