Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP935192.RAxe_6vvCZqERi5qNCMTmTXH07SxQgdeqPPIrw758NRR4130_assertion> ?p ?o ?g. }
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- NP935192.RAxe_6vvCZqERi5qNCMTmTXH07SxQgdeqPPIrw758NRR4130_assertion type Assertion NP935192.RAxe_6vvCZqERi5qNCMTmTXH07SxQgdeqPPIrw758NRR4130_head.
- NP935192.RAxe_6vvCZqERi5qNCMTmTXH07SxQgdeqPPIrw758NRR4130_assertion description "[We conclude that SED Maroteaux type and parastremmatic dysplasia are part of the TRPV4 dysplasia family and that TRPV4 mutations show considerable variability in phenotypic expression resulting in distinct clinical-radiographic phenotypes.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP935192.RAxe_6vvCZqERi5qNCMTmTXH07SxQgdeqPPIrw758NRR4130_provenance.
- NP935192.RAxe_6vvCZqERi5qNCMTmTXH07SxQgdeqPPIrw758NRR4130_assertion evidence source_evidence_literature NP935192.RAxe_6vvCZqERi5qNCMTmTXH07SxQgdeqPPIrw758NRR4130_provenance.
- NP935192.RAxe_6vvCZqERi5qNCMTmTXH07SxQgdeqPPIrw758NRR4130_assertion SIO_000772 20503319 NP935192.RAxe_6vvCZqERi5qNCMTmTXH07SxQgdeqPPIrw758NRR4130_provenance.
- NP935192.RAxe_6vvCZqERi5qNCMTmTXH07SxQgdeqPPIrw758NRR4130_assertion wasDerivedFrom befree-20150227 NP935192.RAxe_6vvCZqERi5qNCMTmTXH07SxQgdeqPPIrw758NRR4130_provenance.
- NP935192.RAxe_6vvCZqERi5qNCMTmTXH07SxQgdeqPPIrw758NRR4130_assertion wasGeneratedBy ECO_0000203 NP935192.RAxe_6vvCZqERi5qNCMTmTXH07SxQgdeqPPIrw758NRR4130_provenance.