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- source_evidence_literature type ECO_0000212 NP460599.RArlZHtb7PPCwCUFNUOBLbftoHlWdcWdXOFpfVYVMQ5Ro130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP460599.RArlZHtb7PPCwCUFNUOBLbftoHlWdcWdXOFpfVYVMQ5Ro130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP460599.RArlZHtb7PPCwCUFNUOBLbftoHlWdcWdXOFpfVYVMQ5Ro130_provenance.
- NP460599.RArlZHtb7PPCwCUFNUOBLbftoHlWdcWdXOFpfVYVMQ5Ro130_assertion description "[Mutations in the human ARX gene show unusually heterogeneous clinical presentations, including syndromic and nonsyndromic mental retardation, myoclonic epilepsy with spasticity, and lissencephaly with abnormal genitalia, that are believed to arise from an impairment of the embryonic mechanisms building the anterior central nervous system structures.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP460599.RArlZHtb7PPCwCUFNUOBLbftoHlWdcWdXOFpfVYVMQ5Ro130_provenance.
- NP460599.RArlZHtb7PPCwCUFNUOBLbftoHlWdcWdXOFpfVYVMQ5Ro130_assertion evidence source_evidence_literature NP460599.RArlZHtb7PPCwCUFNUOBLbftoHlWdcWdXOFpfVYVMQ5Ro130_provenance.
- NP460599.RArlZHtb7PPCwCUFNUOBLbftoHlWdcWdXOFpfVYVMQ5Ro130_assertion SIO_000772 15376319 NP460599.RArlZHtb7PPCwCUFNUOBLbftoHlWdcWdXOFpfVYVMQ5Ro130_provenance.
- NP460599.RArlZHtb7PPCwCUFNUOBLbftoHlWdcWdXOFpfVYVMQ5Ro130_assertion wasDerivedFrom befree-2016 NP460599.RArlZHtb7PPCwCUFNUOBLbftoHlWdcWdXOFpfVYVMQ5Ro130_provenance.
- NP460599.RArlZHtb7PPCwCUFNUOBLbftoHlWdcWdXOFpfVYVMQ5Ro130_assertion wasGeneratedBy ECO_0000203 NP460599.RArlZHtb7PPCwCUFNUOBLbftoHlWdcWdXOFpfVYVMQ5Ro130_provenance.
- befree-2016 importedOn "2016-02-19" NP460599.RArlZHtb7PPCwCUFNUOBLbftoHlWdcWdXOFpfVYVMQ5Ro130_provenance.