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- source_evidence_curated type ECO_0000205 NP3642.RAet43PhgHCFrsF4XXRt3BNMfcU1NFL84s9npsXeDtlQ4130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP3642.RAet43PhgHCFrsF4XXRt3BNMfcU1NFL84s9npsXeDtlQ4130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP3642.RAet43PhgHCFrsF4XXRt3BNMfcU1NFL84s9npsXeDtlQ4130_provenance.
- NP3642.RAet43PhgHCFrsF4XXRt3BNMfcU1NFL84s9npsXeDtlQ4130_assertion description "[We have now identified the defect in Td mice as a single amino acid substitution in the delta8-delta7 sterol isomerase emopamil binding protein (Ebp; encoded by Ebp in mouse) and identified alterations in human EBP in seven unrelated CDPX2 patients.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3642.RAet43PhgHCFrsF4XXRt3BNMfcU1NFL84s9npsXeDtlQ4130_provenance.
- NP3642.RAet43PhgHCFrsF4XXRt3BNMfcU1NFL84s9npsXeDtlQ4130_assertion evidence source_evidence_curated NP3642.RAet43PhgHCFrsF4XXRt3BNMfcU1NFL84s9npsXeDtlQ4130_provenance.
- NP3642.RAet43PhgHCFrsF4XXRt3BNMfcU1NFL84s9npsXeDtlQ4130_assertion SIO_000772 10391218 NP3642.RAet43PhgHCFrsF4XXRt3BNMfcU1NFL84s9npsXeDtlQ4130_provenance.
- NP3642.RAet43PhgHCFrsF4XXRt3BNMfcU1NFL84s9npsXeDtlQ4130_assertion wasDerivedFrom uniprot-20150221 NP3642.RAet43PhgHCFrsF4XXRt3BNMfcU1NFL84s9npsXeDtlQ4130_provenance.
- NP3642.RAet43PhgHCFrsF4XXRt3BNMfcU1NFL84s9npsXeDtlQ4130_assertion wasGeneratedBy ECO_0000218 NP3642.RAet43PhgHCFrsF4XXRt3BNMfcU1NFL84s9npsXeDtlQ4130_provenance.
- uniprot-20150221 importedOn "2015-02-21" NP3642.RAet43PhgHCFrsF4XXRt3BNMfcU1NFL84s9npsXeDtlQ4130_provenance.