Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1116129.RA3RnuTi0OdXRNs6k4K2cJJvvrfgEdEjJzV93cjEClo2g130_assertion> ?p ?o ?g. }
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- NP1116129.RA3RnuTi0OdXRNs6k4K2cJJvvrfgEdEjJzV93cjEClo2g130_assertion type Assertion NP1116129.RA3RnuTi0OdXRNs6k4K2cJJvvrfgEdEjJzV93cjEClo2g130_head.
- NP1116129.RA3RnuTi0OdXRNs6k4K2cJJvvrfgEdEjJzV93cjEClo2g130_assertion description "[Borjeson-Forssman-Lehmann syndrome (BFLS) is an X-linked recessive intellectual disability (ID) disorder caused by mutations in the PHF6 gene and characterised by variable cognitive impairment, a distinct facial gestalt, obesity, and hypogonadism.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1116129.RA3RnuTi0OdXRNs6k4K2cJJvvrfgEdEjJzV93cjEClo2g130_provenance.
- NP1116129.RA3RnuTi0OdXRNs6k4K2cJJvvrfgEdEjJzV93cjEClo2g130_assertion evidence source_evidence_literature NP1116129.RA3RnuTi0OdXRNs6k4K2cJJvvrfgEdEjJzV93cjEClo2g130_provenance.
- NP1116129.RA3RnuTi0OdXRNs6k4K2cJJvvrfgEdEjJzV93cjEClo2g130_assertion SIO_000772 24092917 NP1116129.RA3RnuTi0OdXRNs6k4K2cJJvvrfgEdEjJzV93cjEClo2g130_provenance.
- NP1116129.RA3RnuTi0OdXRNs6k4K2cJJvvrfgEdEjJzV93cjEClo2g130_assertion wasDerivedFrom befree-2016 NP1116129.RA3RnuTi0OdXRNs6k4K2cJJvvrfgEdEjJzV93cjEClo2g130_provenance.
- NP1116129.RA3RnuTi0OdXRNs6k4K2cJJvvrfgEdEjJzV93cjEClo2g130_assertion wasGeneratedBy ECO_0000203 NP1116129.RA3RnuTi0OdXRNs6k4K2cJJvvrfgEdEjJzV93cjEClo2g130_provenance.