Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP365361.RAJr8u5V2X-U2rH1_Ns5CJV1V6Jc4L8Qs8VbQkWpAmDjM130_assertion> ?p ?o ?g. }
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- NP365361.RAJr8u5V2X-U2rH1_Ns5CJV1V6Jc4L8Qs8VbQkWpAmDjM130_assertion type Assertion NP365361.RAJr8u5V2X-U2rH1_Ns5CJV1V6Jc4L8Qs8VbQkWpAmDjM130_head.
- NP365361.RAJr8u5V2X-U2rH1_Ns5CJV1V6Jc4L8Qs8VbQkWpAmDjM130_assertion description "[Achondroplasia, the most common form of dwarfism in man, is a dominant genetic disorder caused by a point mutation (G380R) in the transmembrane region of fibroblast growth factor receptor 3 (FGFR3).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP365361.RAJr8u5V2X-U2rH1_Ns5CJV1V6Jc4L8Qs8VbQkWpAmDjM130_provenance.
- NP365361.RAJr8u5V2X-U2rH1_Ns5CJV1V6Jc4L8Qs8VbQkWpAmDjM130_assertion evidence source_evidence_literature NP365361.RAJr8u5V2X-U2rH1_Ns5CJV1V6Jc4L8Qs8VbQkWpAmDjM130_provenance.
- NP365361.RAJr8u5V2X-U2rH1_Ns5CJV1V6Jc4L8Qs8VbQkWpAmDjM130_assertion SIO_000772 10200283 NP365361.RAJr8u5V2X-U2rH1_Ns5CJV1V6Jc4L8Qs8VbQkWpAmDjM130_provenance.
- NP365361.RAJr8u5V2X-U2rH1_Ns5CJV1V6Jc4L8Qs8VbQkWpAmDjM130_assertion wasDerivedFrom befree-20140225 NP365361.RAJr8u5V2X-U2rH1_Ns5CJV1V6Jc4L8Qs8VbQkWpAmDjM130_provenance.
- NP365361.RAJr8u5V2X-U2rH1_Ns5CJV1V6Jc4L8Qs8VbQkWpAmDjM130_assertion wasGeneratedBy ECO_0000203 NP365361.RAJr8u5V2X-U2rH1_Ns5CJV1V6Jc4L8Qs8VbQkWpAmDjM130_provenance.