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- source_evidence_literature type ECO_0000212 NP914365.RAV67Ap6VnO4-q4_CWysQ6PrWpyjYMfaYV-NvK1hXbiIQ130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP914365.RAV67Ap6VnO4-q4_CWysQ6PrWpyjYMfaYV-NvK1hXbiIQ130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP914365.RAV67Ap6VnO4-q4_CWysQ6PrWpyjYMfaYV-NvK1hXbiIQ130_provenance.
- NP914365.RAV67Ap6VnO4-q4_CWysQ6PrWpyjYMfaYV-NvK1hXbiIQ130_assertion description "[Mutations in human AHI1 underlie the autosomal recessive Joubert Syndrome with brain malformation and mental retardation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP914365.RAV67Ap6VnO4-q4_CWysQ6PrWpyjYMfaYV-NvK1hXbiIQ130_provenance.
- NP914365.RAV67Ap6VnO4-q4_CWysQ6PrWpyjYMfaYV-NvK1hXbiIQ130_assertion evidence source_evidence_literature NP914365.RAV67Ap6VnO4-q4_CWysQ6PrWpyjYMfaYV-NvK1hXbiIQ130_provenance.
- NP914365.RAV67Ap6VnO4-q4_CWysQ6PrWpyjYMfaYV-NvK1hXbiIQ130_assertion SIO_000772 16773125 NP914365.RAV67Ap6VnO4-q4_CWysQ6PrWpyjYMfaYV-NvK1hXbiIQ130_provenance.
- NP914365.RAV67Ap6VnO4-q4_CWysQ6PrWpyjYMfaYV-NvK1hXbiIQ130_assertion wasDerivedFrom befree-20150227 NP914365.RAV67Ap6VnO4-q4_CWysQ6PrWpyjYMfaYV-NvK1hXbiIQ130_provenance.
- NP914365.RAV67Ap6VnO4-q4_CWysQ6PrWpyjYMfaYV-NvK1hXbiIQ130_assertion wasGeneratedBy ECO_0000203 NP914365.RAV67Ap6VnO4-q4_CWysQ6PrWpyjYMfaYV-NvK1hXbiIQ130_provenance.
- befree-20150227 importedOn "2015-02-27" NP914365.RAV67Ap6VnO4-q4_CWysQ6PrWpyjYMfaYV-NvK1hXbiIQ130_provenance.