Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1066914.RAlpcBAe3trWC0NYqbILQxnfrG3mZQYXyxKzz1pZjMpUY130_assertion> ?p ?o ?g. }
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- NP1066914.RAlpcBAe3trWC0NYqbILQxnfrG3mZQYXyxKzz1pZjMpUY130_assertion type Assertion NP1066914.RAlpcBAe3trWC0NYqbILQxnfrG3mZQYXyxKzz1pZjMpUY130_head.
- NP1066914.RAlpcBAe3trWC0NYqbILQxnfrG3mZQYXyxKzz1pZjMpUY130_assertion description "[To date, mutations have been identified in six genes (PIGA, PIGL, PIGM, PIGN, PIGO, and PIGV) encoding proteins in the GPI-anchor-synthesis pathway in individuals with severe neurological features, including seizures, muscular hypotonia, and intellectual disability.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1066914.RAlpcBAe3trWC0NYqbILQxnfrG3mZQYXyxKzz1pZjMpUY130_provenance.
- NP1066914.RAlpcBAe3trWC0NYqbILQxnfrG3mZQYXyxKzz1pZjMpUY130_assertion evidence source_evidence_literature NP1066914.RAlpcBAe3trWC0NYqbILQxnfrG3mZQYXyxKzz1pZjMpUY130_provenance.
- NP1066914.RAlpcBAe3trWC0NYqbILQxnfrG3mZQYXyxKzz1pZjMpUY130_assertion SIO_000772 23561847 NP1066914.RAlpcBAe3trWC0NYqbILQxnfrG3mZQYXyxKzz1pZjMpUY130_provenance.
- NP1066914.RAlpcBAe3trWC0NYqbILQxnfrG3mZQYXyxKzz1pZjMpUY130_assertion wasDerivedFrom befree-2016 NP1066914.RAlpcBAe3trWC0NYqbILQxnfrG3mZQYXyxKzz1pZjMpUY130_provenance.
- NP1066914.RAlpcBAe3trWC0NYqbILQxnfrG3mZQYXyxKzz1pZjMpUY130_assertion wasGeneratedBy ECO_0000203 NP1066914.RAlpcBAe3trWC0NYqbILQxnfrG3mZQYXyxKzz1pZjMpUY130_provenance.