Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1066913.RAYhWJ90cWJaFEaqSbPp_Q5CkxINVpX8JQb1ZLODlMggk130_assertion> ?p ?o ?g. }
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- NP1066913.RAYhWJ90cWJaFEaqSbPp_Q5CkxINVpX8JQb1ZLODlMggk130_assertion type Assertion NP1066913.RAYhWJ90cWJaFEaqSbPp_Q5CkxINVpX8JQb1ZLODlMggk130_head.
- NP1066913.RAYhWJ90cWJaFEaqSbPp_Q5CkxINVpX8JQb1ZLODlMggk130_assertion description "[We performed autozygosity mapping and ultra-deep sequencing followed by stringent filtering and identified two homozygous PGAP2 alterations, p.Tyr99Cys and p.Arg177Pro, in seven offspring with nonspecific autosomal-recessive intellectual disability from two consanguineous families.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1066913.RAYhWJ90cWJaFEaqSbPp_Q5CkxINVpX8JQb1ZLODlMggk130_provenance.
- NP1066913.RAYhWJ90cWJaFEaqSbPp_Q5CkxINVpX8JQb1ZLODlMggk130_assertion evidence source_evidence_literature NP1066913.RAYhWJ90cWJaFEaqSbPp_Q5CkxINVpX8JQb1ZLODlMggk130_provenance.
- NP1066913.RAYhWJ90cWJaFEaqSbPp_Q5CkxINVpX8JQb1ZLODlMggk130_assertion SIO_000772 23561846 NP1066913.RAYhWJ90cWJaFEaqSbPp_Q5CkxINVpX8JQb1ZLODlMggk130_provenance.
- NP1066913.RAYhWJ90cWJaFEaqSbPp_Q5CkxINVpX8JQb1ZLODlMggk130_assertion wasDerivedFrom befree-2016 NP1066913.RAYhWJ90cWJaFEaqSbPp_Q5CkxINVpX8JQb1ZLODlMggk130_provenance.
- NP1066913.RAYhWJ90cWJaFEaqSbPp_Q5CkxINVpX8JQb1ZLODlMggk130_assertion wasGeneratedBy ECO_0000203 NP1066913.RAYhWJ90cWJaFEaqSbPp_Q5CkxINVpX8JQb1ZLODlMggk130_provenance.