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- source_evidence_literature type ECO_0000212 NP491458.RALlhiJ6pOF_UdQUJOBBjhfNdM-kXNaOrgmQ9zYmp9F04130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP491458.RALlhiJ6pOF_UdQUJOBBjhfNdM-kXNaOrgmQ9zYmp9F04130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP491458.RALlhiJ6pOF_UdQUJOBBjhfNdM-kXNaOrgmQ9zYmp9F04130_provenance.
- NP491458.RALlhiJ6pOF_UdQUJOBBjhfNdM-kXNaOrgmQ9zYmp9F04130_assertion description "[Based on a structured questionnaire and medical records, the authors found that 12 of 25 mothers with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) with the R133C NOTCH3 mutation had had neurologic symptoms in 17 of their 43 pregnancies, most commonly hemiparesthesia (76%), hemiparesis (36%), aphasia (65%), and visual disorders (47%).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP491458.RALlhiJ6pOF_UdQUJOBBjhfNdM-kXNaOrgmQ9zYmp9F04130_provenance.
- NP491458.RALlhiJ6pOF_UdQUJOBBjhfNdM-kXNaOrgmQ9zYmp9F04130_assertion evidence source_evidence_literature NP491458.RALlhiJ6pOF_UdQUJOBBjhfNdM-kXNaOrgmQ9zYmp9F04130_provenance.
- NP491458.RALlhiJ6pOF_UdQUJOBBjhfNdM-kXNaOrgmQ9zYmp9F04130_assertion SIO_000772 15851739 NP491458.RALlhiJ6pOF_UdQUJOBBjhfNdM-kXNaOrgmQ9zYmp9F04130_provenance.
- NP491458.RALlhiJ6pOF_UdQUJOBBjhfNdM-kXNaOrgmQ9zYmp9F04130_assertion wasDerivedFrom befree-2016 NP491458.RALlhiJ6pOF_UdQUJOBBjhfNdM-kXNaOrgmQ9zYmp9F04130_provenance.
- NP491458.RALlhiJ6pOF_UdQUJOBBjhfNdM-kXNaOrgmQ9zYmp9F04130_assertion wasGeneratedBy ECO_0000203 NP491458.RALlhiJ6pOF_UdQUJOBBjhfNdM-kXNaOrgmQ9zYmp9F04130_provenance.
- befree-2016 importedOn "2016-02-19" NP491458.RALlhiJ6pOF_UdQUJOBBjhfNdM-kXNaOrgmQ9zYmp9F04130_provenance.