Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP841355.RA6QiNWm2HBhFWTeKW_ADJB_p4Id2FSJ71cphwH7DA1Bk130_assertion> ?p ?o ?g. }
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- NP841355.RA6QiNWm2HBhFWTeKW_ADJB_p4Id2FSJ71cphwH7DA1Bk130_assertion type Assertion NP841355.RA6QiNWm2HBhFWTeKW_ADJB_p4Id2FSJ71cphwH7DA1Bk130_head.
- NP841355.RA6QiNWm2HBhFWTeKW_ADJB_p4Id2FSJ71cphwH7DA1Bk130_assertion description "[A translocation between Xq21.33 and 22q13.33 causes an intragenic SHANK3 deletion in a woman with Phelan-McDermid syndrome and hypergonadotropic hypogonadism.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP841355.RA6QiNWm2HBhFWTeKW_ADJB_p4Id2FSJ71cphwH7DA1Bk130_provenance.
- NP841355.RA6QiNWm2HBhFWTeKW_ADJB_p4Id2FSJ71cphwH7DA1Bk130_assertion evidence source_evidence_literature NP841355.RA6QiNWm2HBhFWTeKW_ADJB_p4Id2FSJ71cphwH7DA1Bk130_provenance.
- NP841355.RA6QiNWm2HBhFWTeKW_ADJB_p4Id2FSJ71cphwH7DA1Bk130_assertion SIO_000772 21271662 NP841355.RA6QiNWm2HBhFWTeKW_ADJB_p4Id2FSJ71cphwH7DA1Bk130_provenance.
- NP841355.RA6QiNWm2HBhFWTeKW_ADJB_p4Id2FSJ71cphwH7DA1Bk130_assertion wasDerivedFrom befree-20140225 NP841355.RA6QiNWm2HBhFWTeKW_ADJB_p4Id2FSJ71cphwH7DA1Bk130_provenance.
- NP841355.RA6QiNWm2HBhFWTeKW_ADJB_p4Id2FSJ71cphwH7DA1Bk130_assertion wasGeneratedBy ECO_0000203 NP841355.RA6QiNWm2HBhFWTeKW_ADJB_p4Id2FSJ71cphwH7DA1Bk130_provenance.