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- source_evidence_literature type ECO_0000212 NP412731.RAjEl7oxZUanT3uLqiGq-IkDVjGeDZeOPfTYFrHd3ngzU130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP412731.RAjEl7oxZUanT3uLqiGq-IkDVjGeDZeOPfTYFrHd3ngzU130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP412731.RAjEl7oxZUanT3uLqiGq-IkDVjGeDZeOPfTYFrHd3ngzU130_provenance.
- NP412731.RAjEl7oxZUanT3uLqiGq-IkDVjGeDZeOPfTYFrHd3ngzU130_assertion description "[Fragile X syndrome is a neurodevelopmental disorder that is caused by large methylated expansions of a CGG repeat (>200) region upstream of the FMR1 gene that results in the lack of expression of the fragile X mental retardation protein (FMRP).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP412731.RAjEl7oxZUanT3uLqiGq-IkDVjGeDZeOPfTYFrHd3ngzU130_provenance.
- NP412731.RAjEl7oxZUanT3uLqiGq-IkDVjGeDZeOPfTYFrHd3ngzU130_assertion evidence source_evidence_literature NP412731.RAjEl7oxZUanT3uLqiGq-IkDVjGeDZeOPfTYFrHd3ngzU130_provenance.
- NP412731.RAjEl7oxZUanT3uLqiGq-IkDVjGeDZeOPfTYFrHd3ngzU130_assertion SIO_000772 15629215 NP412731.RAjEl7oxZUanT3uLqiGq-IkDVjGeDZeOPfTYFrHd3ngzU130_provenance.
- NP412731.RAjEl7oxZUanT3uLqiGq-IkDVjGeDZeOPfTYFrHd3ngzU130_assertion wasDerivedFrom befree-20150227 NP412731.RAjEl7oxZUanT3uLqiGq-IkDVjGeDZeOPfTYFrHd3ngzU130_provenance.
- NP412731.RAjEl7oxZUanT3uLqiGq-IkDVjGeDZeOPfTYFrHd3ngzU130_assertion wasGeneratedBy ECO_0000203 NP412731.RAjEl7oxZUanT3uLqiGq-IkDVjGeDZeOPfTYFrHd3ngzU130_provenance.
- befree-20150227 importedOn "2015-02-27" NP412731.RAjEl7oxZUanT3uLqiGq-IkDVjGeDZeOPfTYFrHd3ngzU130_provenance.