Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1267438.RAbdZMfX_GK7BVcK8Zmnv-vB71ocTjmYQFB63t5Whvesc130_assertion> ?p ?o ?g. }
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- NP1267438.RAbdZMfX_GK7BVcK8Zmnv-vB71ocTjmYQFB63t5Whvesc130_assertion type Assertion NP1267438.RAbdZMfX_GK7BVcK8Zmnv-vB71ocTjmYQFB63t5Whvesc130_head.
- NP1267438.RAbdZMfX_GK7BVcK8Zmnv-vB71ocTjmYQFB63t5Whvesc130_assertion description "[Using exome sequencing, we discovered missense mutations in AFF4, a core component of the SEC, in three unrelated probands with a new syndrome that phenotypically overlaps Cornelia de Lange syndrome (CdLS) that we have named CHOPS syndrome (C for cognitive impairment and coarse facies, H for heart defects, O for obesity, P for pulmonary involvement and S for short stature and skeletal dysplasia).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1267438.RAbdZMfX_GK7BVcK8Zmnv-vB71ocTjmYQFB63t5Whvesc130_provenance.
- NP1267438.RAbdZMfX_GK7BVcK8Zmnv-vB71ocTjmYQFB63t5Whvesc130_assertion evidence source_evidence_literature NP1267438.RAbdZMfX_GK7BVcK8Zmnv-vB71ocTjmYQFB63t5Whvesc130_provenance.
- NP1267438.RAbdZMfX_GK7BVcK8Zmnv-vB71ocTjmYQFB63t5Whvesc130_assertion SIO_000772 25730767 NP1267438.RAbdZMfX_GK7BVcK8Zmnv-vB71ocTjmYQFB63t5Whvesc130_provenance.
- NP1267438.RAbdZMfX_GK7BVcK8Zmnv-vB71ocTjmYQFB63t5Whvesc130_assertion wasDerivedFrom befree-2016 NP1267438.RAbdZMfX_GK7BVcK8Zmnv-vB71ocTjmYQFB63t5Whvesc130_provenance.
- NP1267438.RAbdZMfX_GK7BVcK8Zmnv-vB71ocTjmYQFB63t5Whvesc130_assertion wasGeneratedBy ECO_0000203 NP1267438.RAbdZMfX_GK7BVcK8Zmnv-vB71ocTjmYQFB63t5Whvesc130_provenance.