Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1261067.RAn11Qe2N6pZOiF_CVjxkb27FEviNhF7eA1dCxLXRdzl4130_assertion> ?p ?o ?g. }
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- NP1261067.RAn11Qe2N6pZOiF_CVjxkb27FEviNhF7eA1dCxLXRdzl4130_assertion type Assertion NP1261067.RAn11Qe2N6pZOiF_CVjxkb27FEviNhF7eA1dCxLXRdzl4130_head.
- NP1261067.RAn11Qe2N6pZOiF_CVjxkb27FEviNhF7eA1dCxLXRdzl4130_assertion description "[Dymeclin is a Golgi-associated protein whose deficiency causes Dyggve-Melchior-Clausen syndrome (DMC, MIM #223800), a rare recessively inherited spondyloepimetaphyseal dysplasia consistently associated with postnatal microcephaly and intellectual disability.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1261067.RAn11Qe2N6pZOiF_CVjxkb27FEviNhF7eA1dCxLXRdzl4130_provenance.
- NP1261067.RAn11Qe2N6pZOiF_CVjxkb27FEviNhF7eA1dCxLXRdzl4130_assertion evidence source_evidence_literature NP1261067.RAn11Qe2N6pZOiF_CVjxkb27FEviNhF7eA1dCxLXRdzl4130_provenance.
- NP1261067.RAn11Qe2N6pZOiF_CVjxkb27FEviNhF7eA1dCxLXRdzl4130_assertion SIO_000772 25652408 NP1261067.RAn11Qe2N6pZOiF_CVjxkb27FEviNhF7eA1dCxLXRdzl4130_provenance.
- NP1261067.RAn11Qe2N6pZOiF_CVjxkb27FEviNhF7eA1dCxLXRdzl4130_assertion wasDerivedFrom befree-2016 NP1261067.RAn11Qe2N6pZOiF_CVjxkb27FEviNhF7eA1dCxLXRdzl4130_provenance.
- NP1261067.RAn11Qe2N6pZOiF_CVjxkb27FEviNhF7eA1dCxLXRdzl4130_assertion wasGeneratedBy ECO_0000203 NP1261067.RAn11Qe2N6pZOiF_CVjxkb27FEviNhF7eA1dCxLXRdzl4130_provenance.