Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP889119.RAiOpHImc_WUF8h75vr2Q5rBacUd98crC2pmBBRW_AMzM130_assertion> ?p ?o ?g. }
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- NP889119.RAiOpHImc_WUF8h75vr2Q5rBacUd98crC2pmBBRW_AMzM130_assertion type Assertion NP889119.RAiOpHImc_WUF8h75vr2Q5rBacUd98crC2pmBBRW_AMzM130_head.
- NP889119.RAiOpHImc_WUF8h75vr2Q5rBacUd98crC2pmBBRW_AMzM130_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." NP889119.RAiOpHImc_WUF8h75vr2Q5rBacUd98crC2pmBBRW_AMzM130_provenance.
- NP889119.RAiOpHImc_WUF8h75vr2Q5rBacUd98crC2pmBBRW_AMzM130_assertion evidence source_evidence_literature NP889119.RAiOpHImc_WUF8h75vr2Q5rBacUd98crC2pmBBRW_AMzM130_provenance.
- NP889119.RAiOpHImc_WUF8h75vr2Q5rBacUd98crC2pmBBRW_AMzM130_assertion SIO_000772 23561846 NP889119.RAiOpHImc_WUF8h75vr2Q5rBacUd98crC2pmBBRW_AMzM130_provenance.
- NP889119.RAiOpHImc_WUF8h75vr2Q5rBacUd98crC2pmBBRW_AMzM130_assertion wasDerivedFrom befree-20150227 NP889119.RAiOpHImc_WUF8h75vr2Q5rBacUd98crC2pmBBRW_AMzM130_provenance.
- NP889119.RAiOpHImc_WUF8h75vr2Q5rBacUd98crC2pmBBRW_AMzM130_assertion wasGeneratedBy ECO_0000203 NP889119.RAiOpHImc_WUF8h75vr2Q5rBacUd98crC2pmBBRW_AMzM130_provenance.