Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP938764.RAcTDz6CiFg3ZnkWc4KjTWSjrpGrGzKyBqeJBQ2XkPJ_s130_assertion> ?p ?o ?g. }
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- NP938764.RAcTDz6CiFg3ZnkWc4KjTWSjrpGrGzKyBqeJBQ2XkPJ_s130_assertion type Assertion NP938764.RAcTDz6CiFg3ZnkWc4KjTWSjrpGrGzKyBqeJBQ2XkPJ_s130_head.
- NP938764.RAcTDz6CiFg3ZnkWc4KjTWSjrpGrGzKyBqeJBQ2XkPJ_s130_assertion description "[In this series, we found a 5q35 deletion removing the NSD1 gene in a patient with severe epilepsy, profound MR and, retrospectively, craniofacial features of Sotos syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP938764.RAcTDz6CiFg3ZnkWc4KjTWSjrpGrGzKyBqeJBQ2XkPJ_s130_provenance.
- NP938764.RAcTDz6CiFg3ZnkWc4KjTWSjrpGrGzKyBqeJBQ2XkPJ_s130_assertion evidence source_evidence_literature NP938764.RAcTDz6CiFg3ZnkWc4KjTWSjrpGrGzKyBqeJBQ2XkPJ_s130_provenance.
- NP938764.RAcTDz6CiFg3ZnkWc4KjTWSjrpGrGzKyBqeJBQ2XkPJ_s130_assertion SIO_000772 16773131 NP938764.RAcTDz6CiFg3ZnkWc4KjTWSjrpGrGzKyBqeJBQ2XkPJ_s130_provenance.
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