Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP744196.RAQhJmghshU7F9wJOfOhDPZNq8IkpAN0ZZ0Sb7fIqXFrk130_assertion> ?p ?o ?g. }
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- NP744196.RAQhJmghshU7F9wJOfOhDPZNq8IkpAN0ZZ0Sb7fIqXFrk130_assertion type Assertion NP744196.RAQhJmghshU7F9wJOfOhDPZNq8IkpAN0ZZ0Sb7fIqXFrk130_head.
- NP744196.RAQhJmghshU7F9wJOfOhDPZNq8IkpAN0ZZ0Sb7fIqXFrk130_assertion description "[A compound heterozygote harboring novel and recurrent DTDST mutations with intermediate phenotype between atelosteogenesis type II and diastrophic dysplasia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP744196.RAQhJmghshU7F9wJOfOhDPZNq8IkpAN0ZZ0Sb7fIqXFrk130_provenance.
- NP744196.RAQhJmghshU7F9wJOfOhDPZNq8IkpAN0ZZ0Sb7fIqXFrk130_assertion evidence source_evidence_literature NP744196.RAQhJmghshU7F9wJOfOhDPZNq8IkpAN0ZZ0Sb7fIqXFrk130_provenance.
- NP744196.RAQhJmghshU7F9wJOfOhDPZNq8IkpAN0ZZ0Sb7fIqXFrk130_assertion SIO_000772 16642506 NP744196.RAQhJmghshU7F9wJOfOhDPZNq8IkpAN0ZZ0Sb7fIqXFrk130_provenance.
- NP744196.RAQhJmghshU7F9wJOfOhDPZNq8IkpAN0ZZ0Sb7fIqXFrk130_assertion wasDerivedFrom befree-20140225 NP744196.RAQhJmghshU7F9wJOfOhDPZNq8IkpAN0ZZ0Sb7fIqXFrk130_provenance.
- NP744196.RAQhJmghshU7F9wJOfOhDPZNq8IkpAN0ZZ0Sb7fIqXFrk130_assertion wasGeneratedBy ECO_0000203 NP744196.RAQhJmghshU7F9wJOfOhDPZNq8IkpAN0ZZ0Sb7fIqXFrk130_provenance.