Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP908139.RADeXrxktlTyWTPRs77ogAjozEtq_Isl41kG8ilf7Gq6o130_assertion> ?p ?o ?g. }
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- NP908139.RADeXrxktlTyWTPRs77ogAjozEtq_Isl41kG8ilf7Gq6o130_assertion type Assertion NP908139.RADeXrxktlTyWTPRs77ogAjozEtq_Isl41kG8ilf7Gq6o130_head.
- NP908139.RADeXrxktlTyWTPRs77ogAjozEtq_Isl41kG8ilf7Gq6o130_assertion description "[Specific mutations in at least four genes (whose protein products are essential in lower brain's neuronal and interneuronal functions, including mitochondrial respiratory chains have been identified in unrelated individuals with EIEE and include: (a) the ARX (aristaless-related) homeobox gene at Xp22.13 (EIEE-1 variant); (b) the CDKL5 (SYK9) gene at Xp22 (EIEE-2 variant); (c) the SLC25A22 (GC1) gene at 11p15.5 (EIEE-3 variant); and (d) the Stxbp1 (MUNC18-1) gene at 9q34-1 (EIEE-4 variant).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP908139.RADeXrxktlTyWTPRs77ogAjozEtq_Isl41kG8ilf7Gq6o130_provenance.
- NP908139.RADeXrxktlTyWTPRs77ogAjozEtq_Isl41kG8ilf7Gq6o130_assertion evidence source_evidence_literature NP908139.RADeXrxktlTyWTPRs77ogAjozEtq_Isl41kG8ilf7Gq6o130_provenance.
- NP908139.RADeXrxktlTyWTPRs77ogAjozEtq_Isl41kG8ilf7Gq6o130_assertion SIO_000772 21967765 NP908139.RADeXrxktlTyWTPRs77ogAjozEtq_Isl41kG8ilf7Gq6o130_provenance.
- NP908139.RADeXrxktlTyWTPRs77ogAjozEtq_Isl41kG8ilf7Gq6o130_assertion wasDerivedFrom befree-20140225 NP908139.RADeXrxktlTyWTPRs77ogAjozEtq_Isl41kG8ilf7Gq6o130_provenance.
- NP908139.RADeXrxktlTyWTPRs77ogAjozEtq_Isl41kG8ilf7Gq6o130_assertion wasGeneratedBy ECO_0000203 NP908139.RADeXrxktlTyWTPRs77ogAjozEtq_Isl41kG8ilf7Gq6o130_provenance.