Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP620603.RAICXhOT-D98M7gNDyXgW5SFAcbky8A_XlilSe5u7F7lA130_assertion> ?p ?o ?g. }
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- NP620603.RAICXhOT-D98M7gNDyXgW5SFAcbky8A_XlilSe5u7F7lA130_assertion type Assertion NP620603.RAICXhOT-D98M7gNDyXgW5SFAcbky8A_XlilSe5u7F7lA130_head.
- NP620603.RAICXhOT-D98M7gNDyXgW5SFAcbky8A_XlilSe5u7F7lA130_assertion description "[Germline mutations in six genes (PIGA, PIGL, PIGM, PIGV, PIGN, and PIGO) in the ER-located part of the GPI-anchor-biosynthesis pathway have been reported, and all are associated with phenotypes extending from malformation and lethality to severe intellectual disability, epilepsy, minor dysmorphisms, and elevated alkaline phosphatase (ALP).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP620603.RAICXhOT-D98M7gNDyXgW5SFAcbky8A_XlilSe5u7F7lA130_provenance.
- NP620603.RAICXhOT-D98M7gNDyXgW5SFAcbky8A_XlilSe5u7F7lA130_assertion evidence source_evidence_literature NP620603.RAICXhOT-D98M7gNDyXgW5SFAcbky8A_XlilSe5u7F7lA130_provenance.
- NP620603.RAICXhOT-D98M7gNDyXgW5SFAcbky8A_XlilSe5u7F7lA130_assertion SIO_000772 23561846 NP620603.RAICXhOT-D98M7gNDyXgW5SFAcbky8A_XlilSe5u7F7lA130_provenance.
- NP620603.RAICXhOT-D98M7gNDyXgW5SFAcbky8A_XlilSe5u7F7lA130_assertion wasDerivedFrom befree-20150227 NP620603.RAICXhOT-D98M7gNDyXgW5SFAcbky8A_XlilSe5u7F7lA130_provenance.
- NP620603.RAICXhOT-D98M7gNDyXgW5SFAcbky8A_XlilSe5u7F7lA130_assertion wasGeneratedBy ECO_0000203 NP620603.RAICXhOT-D98M7gNDyXgW5SFAcbky8A_XlilSe5u7F7lA130_provenance.