Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP547063.RASfuV0Y20tlJUi_019ELFtBqzJ3cjhzSIUdKkflMvUmY130_assertion> ?p ?o ?g. }
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- NP547063.RASfuV0Y20tlJUi_019ELFtBqzJ3cjhzSIUdKkflMvUmY130_assertion type Assertion NP547063.RASfuV0Y20tlJUi_019ELFtBqzJ3cjhzSIUdKkflMvUmY130_head.
- NP547063.RASfuV0Y20tlJUi_019ELFtBqzJ3cjhzSIUdKkflMvUmY130_assertion description "[Over 30 mutations have been described in the DTDST gene, which result in a continuous clinical spectrum of recessively inherited chondrodysplasias, including, in order of increasing severity, a recessive form of multiple epiphyseal dysplasia (rMED), diastrophic dysplasia (DTD), atelosteogenesis type II (AO-II) and achondrogenesis 1B (ACG-1B).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP547063.RASfuV0Y20tlJUi_019ELFtBqzJ3cjhzSIUdKkflMvUmY130_provenance.
- NP547063.RASfuV0Y20tlJUi_019ELFtBqzJ3cjhzSIUdKkflMvUmY130_assertion evidence source_evidence_literature NP547063.RASfuV0Y20tlJUi_019ELFtBqzJ3cjhzSIUdKkflMvUmY130_provenance.
- NP547063.RASfuV0Y20tlJUi_019ELFtBqzJ3cjhzSIUdKkflMvUmY130_assertion SIO_000772 16642506 NP547063.RASfuV0Y20tlJUi_019ELFtBqzJ3cjhzSIUdKkflMvUmY130_provenance.
- NP547063.RASfuV0Y20tlJUi_019ELFtBqzJ3cjhzSIUdKkflMvUmY130_assertion wasDerivedFrom befree-2016 NP547063.RASfuV0Y20tlJUi_019ELFtBqzJ3cjhzSIUdKkflMvUmY130_provenance.
- NP547063.RASfuV0Y20tlJUi_019ELFtBqzJ3cjhzSIUdKkflMvUmY130_assertion wasGeneratedBy ECO_0000203 NP547063.RASfuV0Y20tlJUi_019ELFtBqzJ3cjhzSIUdKkflMvUmY130_provenance.