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- source_evidence_literature type ECO_0000212 NP403598.RAHjzdB8YuGANXmUAYgnJnpt5X18Eb1KfU4A5enRQstxc130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP403598.RAHjzdB8YuGANXmUAYgnJnpt5X18Eb1KfU4A5enRQstxc130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP403598.RAHjzdB8YuGANXmUAYgnJnpt5X18Eb1KfU4A5enRQstxc130_provenance.
- NP403598.RAHjzdB8YuGANXmUAYgnJnpt5X18Eb1KfU4A5enRQstxc130_assertion description "[We report a novel LIM2 domain mutation in FHL1 in a previously reported family with RBM with cytoplasmic bodies and spinal rigidity.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP403598.RAHjzdB8YuGANXmUAYgnJnpt5X18Eb1KfU4A5enRQstxc130_provenance.
- NP403598.RAHjzdB8YuGANXmUAYgnJnpt5X18Eb1KfU4A5enRQstxc130_assertion evidence source_evidence_literature NP403598.RAHjzdB8YuGANXmUAYgnJnpt5X18Eb1KfU4A5enRQstxc130_provenance.
- NP403598.RAHjzdB8YuGANXmUAYgnJnpt5X18Eb1KfU4A5enRQstxc130_assertion SIO_000772 20571991 NP403598.RAHjzdB8YuGANXmUAYgnJnpt5X18Eb1KfU4A5enRQstxc130_provenance.
- NP403598.RAHjzdB8YuGANXmUAYgnJnpt5X18Eb1KfU4A5enRQstxc130_assertion wasDerivedFrom befree-20150227 NP403598.RAHjzdB8YuGANXmUAYgnJnpt5X18Eb1KfU4A5enRQstxc130_provenance.
- NP403598.RAHjzdB8YuGANXmUAYgnJnpt5X18Eb1KfU4A5enRQstxc130_assertion wasGeneratedBy ECO_0000203 NP403598.RAHjzdB8YuGANXmUAYgnJnpt5X18Eb1KfU4A5enRQstxc130_provenance.
- befree-20150227 importedOn "2015-02-27" NP403598.RAHjzdB8YuGANXmUAYgnJnpt5X18Eb1KfU4A5enRQstxc130_provenance.