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- source_evidence_literature type ECO_0000212 NP276975.RADrDqDjTPTxqy9mzl-jl9yRn77X1ITz6T-KtYlYvtDJY130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP276975.RADrDqDjTPTxqy9mzl-jl9yRn77X1ITz6T-KtYlYvtDJY130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP276975.RADrDqDjTPTxqy9mzl-jl9yRn77X1ITz6T-KtYlYvtDJY130_provenance.
- NP276975.RADrDqDjTPTxqy9mzl-jl9yRn77X1ITz6T-KtYlYvtDJY130_assertion description "[The classical form of severe spinal muscular atrophy (SMA type 1; Werdnig-Hoffmann disease) has a very consistent clinical phenotype that is well recognized by paediatricians.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP276975.RADrDqDjTPTxqy9mzl-jl9yRn77X1ITz6T-KtYlYvtDJY130_provenance.
- NP276975.RADrDqDjTPTxqy9mzl-jl9yRn77X1ITz6T-KtYlYvtDJY130_assertion evidence source_evidence_literature NP276975.RADrDqDjTPTxqy9mzl-jl9yRn77X1ITz6T-KtYlYvtDJY130_provenance.
- NP276975.RADrDqDjTPTxqy9mzl-jl9yRn77X1ITz6T-KtYlYvtDJY130_assertion SIO_000772 10700538 NP276975.RADrDqDjTPTxqy9mzl-jl9yRn77X1ITz6T-KtYlYvtDJY130_provenance.
- NP276975.RADrDqDjTPTxqy9mzl-jl9yRn77X1ITz6T-KtYlYvtDJY130_assertion wasDerivedFrom befree-2016 NP276975.RADrDqDjTPTxqy9mzl-jl9yRn77X1ITz6T-KtYlYvtDJY130_provenance.
- NP276975.RADrDqDjTPTxqy9mzl-jl9yRn77X1ITz6T-KtYlYvtDJY130_assertion wasGeneratedBy ECO_0000203 NP276975.RADrDqDjTPTxqy9mzl-jl9yRn77X1ITz6T-KtYlYvtDJY130_provenance.
- befree-2016 importedOn "2016-02-19" NP276975.RADrDqDjTPTxqy9mzl-jl9yRn77X1ITz6T-KtYlYvtDJY130_provenance.