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- source_evidence_literature type ECO_0000212 NP733328.RABh1mRzPOUhBFu-L4Z--9p4KPbNLIlNYZf8EKIS-K-5c130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP733328.RABh1mRzPOUhBFu-L4Z--9p4KPbNLIlNYZf8EKIS-K-5c130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP733328.RABh1mRzPOUhBFu-L4Z--9p4KPbNLIlNYZf8EKIS-K-5c130_provenance.
- NP733328.RABh1mRzPOUhBFu-L4Z--9p4KPbNLIlNYZf8EKIS-K-5c130_assertion description "[Spinal muscular atrophy (SMA), the leading genetic cause of death in childhood, is an autosomal recessive neuromuscular disorder characterized by progressive muscle weakness, associated with deletions of the survival motor neuron (SMN) gene identified and mapped to chromosome 5q13.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP733328.RABh1mRzPOUhBFu-L4Z--9p4KPbNLIlNYZf8EKIS-K-5c130_provenance.
- NP733328.RABh1mRzPOUhBFu-L4Z--9p4KPbNLIlNYZf8EKIS-K-5c130_assertion evidence source_evidence_literature NP733328.RABh1mRzPOUhBFu-L4Z--9p4KPbNLIlNYZf8EKIS-K-5c130_provenance.
- NP733328.RABh1mRzPOUhBFu-L4Z--9p4KPbNLIlNYZf8EKIS-K-5c130_assertion SIO_000772 19378506 NP733328.RABh1mRzPOUhBFu-L4Z--9p4KPbNLIlNYZf8EKIS-K-5c130_provenance.
- NP733328.RABh1mRzPOUhBFu-L4Z--9p4KPbNLIlNYZf8EKIS-K-5c130_assertion wasDerivedFrom befree-2016 NP733328.RABh1mRzPOUhBFu-L4Z--9p4KPbNLIlNYZf8EKIS-K-5c130_provenance.
- NP733328.RABh1mRzPOUhBFu-L4Z--9p4KPbNLIlNYZf8EKIS-K-5c130_assertion wasGeneratedBy ECO_0000203 NP733328.RABh1mRzPOUhBFu-L4Z--9p4KPbNLIlNYZf8EKIS-K-5c130_provenance.
- befree-2016 importedOn "2016-02-19" NP733328.RABh1mRzPOUhBFu-L4Z--9p4KPbNLIlNYZf8EKIS-K-5c130_provenance.