Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP722797.RA6J3bXhxENDGeCBAZF9j-kBKJaxCPCglCk04CjtTObB0130_assertion> ?p ?o ?g. }
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- NP722797.RA6J3bXhxENDGeCBAZF9j-kBKJaxCPCglCk04CjtTObB0130_assertion type Assertion NP722797.RA6J3bXhxENDGeCBAZF9j-kBKJaxCPCglCk04CjtTObB0130_head.
- NP722797.RA6J3bXhxENDGeCBAZF9j-kBKJaxCPCglCk04CjtTObB0130_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." NP722797.RA6J3bXhxENDGeCBAZF9j-kBKJaxCPCglCk04CjtTObB0130_provenance.
- NP722797.RA6J3bXhxENDGeCBAZF9j-kBKJaxCPCglCk04CjtTObB0130_assertion evidence source_evidence_literature NP722797.RA6J3bXhxENDGeCBAZF9j-kBKJaxCPCglCk04CjtTObB0130_provenance.
- NP722797.RA6J3bXhxENDGeCBAZF9j-kBKJaxCPCglCk04CjtTObB0130_assertion SIO_000772 16642506 NP722797.RA6J3bXhxENDGeCBAZF9j-kBKJaxCPCglCk04CjtTObB0130_provenance.
- NP722797.RA6J3bXhxENDGeCBAZF9j-kBKJaxCPCglCk04CjtTObB0130_assertion wasDerivedFrom befree-20140225 NP722797.RA6J3bXhxENDGeCBAZF9j-kBKJaxCPCglCk04CjtTObB0130_provenance.
- NP722797.RA6J3bXhxENDGeCBAZF9j-kBKJaxCPCglCk04CjtTObB0130_assertion wasGeneratedBy ECO_0000203 NP722797.RA6J3bXhxENDGeCBAZF9j-kBKJaxCPCglCk04CjtTObB0130_provenance.