Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP880539.RAB4D1mXFtx3sLvfSjLkBRqTSTzhx4jOsmqlQhIeHJmMo130_assertion> ?p ?o ?g. }
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- NP880539.RAB4D1mXFtx3sLvfSjLkBRqTSTzhx4jOsmqlQhIeHJmMo130_assertion type Assertion NP880539.RAB4D1mXFtx3sLvfSjLkBRqTSTzhx4jOsmqlQhIeHJmMo130_head.
- NP880539.RAB4D1mXFtx3sLvfSjLkBRqTSTzhx4jOsmqlQhIeHJmMo130_assertion description "[X-linked PNH caused by FLN1 mutations (MIM #300049) implies prenatal or early postnatal lethality in boys and 50% recurrence risk in daughters of affected women.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP880539.RAB4D1mXFtx3sLvfSjLkBRqTSTzhx4jOsmqlQhIeHJmMo130_provenance.
- NP880539.RAB4D1mXFtx3sLvfSjLkBRqTSTzhx4jOsmqlQhIeHJmMo130_assertion evidence source_evidence_literature NP880539.RAB4D1mXFtx3sLvfSjLkBRqTSTzhx4jOsmqlQhIeHJmMo130_provenance.
- NP880539.RAB4D1mXFtx3sLvfSjLkBRqTSTzhx4jOsmqlQhIeHJmMo130_assertion SIO_000772 15249610 NP880539.RAB4D1mXFtx3sLvfSjLkBRqTSTzhx4jOsmqlQhIeHJmMo130_provenance.
- NP880539.RAB4D1mXFtx3sLvfSjLkBRqTSTzhx4jOsmqlQhIeHJmMo130_assertion wasDerivedFrom befree-20140225 NP880539.RAB4D1mXFtx3sLvfSjLkBRqTSTzhx4jOsmqlQhIeHJmMo130_provenance.
- NP880539.RAB4D1mXFtx3sLvfSjLkBRqTSTzhx4jOsmqlQhIeHJmMo130_assertion wasGeneratedBy ECO_0000203 NP880539.RAB4D1mXFtx3sLvfSjLkBRqTSTzhx4jOsmqlQhIeHJmMo130_provenance.