Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1230943.RA9_xyxKY8g8cc3AkMen3qtDLhNnf4h-gXhOhX4PsLmp8130_assertion> ?p ?o ?g. }
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- NP1230943.RA9_xyxKY8g8cc3AkMen3qtDLhNnf4h-gXhOhX4PsLmp8130_assertion type Assertion NP1230943.RA9_xyxKY8g8cc3AkMen3qtDLhNnf4h-gXhOhX4PsLmp8130_head.
- NP1230943.RA9_xyxKY8g8cc3AkMen3qtDLhNnf4h-gXhOhX4PsLmp8130_assertion description "[Inactivating mutations in the GALT-II gene (B3GALT6) associated with Ehlers-Danlos syndrome cause proteoglycan maturation defects similar to FAM20B deletion.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1230943.RA9_xyxKY8g8cc3AkMen3qtDLhNnf4h-gXhOhX4PsLmp8130_provenance.
- NP1230943.RA9_xyxKY8g8cc3AkMen3qtDLhNnf4h-gXhOhX4PsLmp8130_assertion evidence source_evidence_literature NP1230943.RA9_xyxKY8g8cc3AkMen3qtDLhNnf4h-gXhOhX4PsLmp8130_provenance.
- NP1230943.RA9_xyxKY8g8cc3AkMen3qtDLhNnf4h-gXhOhX4PsLmp8130_assertion SIO_000772 25331875 NP1230943.RA9_xyxKY8g8cc3AkMen3qtDLhNnf4h-gXhOhX4PsLmp8130_provenance.
- NP1230943.RA9_xyxKY8g8cc3AkMen3qtDLhNnf4h-gXhOhX4PsLmp8130_assertion wasDerivedFrom befree-2016 NP1230943.RA9_xyxKY8g8cc3AkMen3qtDLhNnf4h-gXhOhX4PsLmp8130_provenance.
- NP1230943.RA9_xyxKY8g8cc3AkMen3qtDLhNnf4h-gXhOhX4PsLmp8130_assertion wasGeneratedBy ECO_0000203 NP1230943.RA9_xyxKY8g8cc3AkMen3qtDLhNnf4h-gXhOhX4PsLmp8130_provenance.