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- source_evidence_literature type ECO_0000212 NP692705.RALzh2g3NfXeNELdEUhzKNOx-F6o2mFNiFsr7D7N6N_B4130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP692705.RALzh2g3NfXeNELdEUhzKNOx-F6o2mFNiFsr7D7N6N_B4130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP692705.RALzh2g3NfXeNELdEUhzKNOx-F6o2mFNiFsr7D7N6N_B4130_provenance.
- NP692705.RALzh2g3NfXeNELdEUhzKNOx-F6o2mFNiFsr7D7N6N_B4130_assertion description "[Sanfilippo A syndrome (mucopolysaccharidosis type IIIA, MPS-IIIA) is an autosomal recessive neurodegenerative disorder due to an enzymatic defect of the lysosomal enzyme sulphamidase (EC 3.10.1.1) required for the degradation of heparan sulphate.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP692705.RALzh2g3NfXeNELdEUhzKNOx-F6o2mFNiFsr7D7N6N_B4130_provenance.
- NP692705.RALzh2g3NfXeNELdEUhzKNOx-F6o2mFNiFsr7D7N6N_B4130_assertion evidence source_evidence_literature NP692705.RALzh2g3NfXeNELdEUhzKNOx-F6o2mFNiFsr7D7N6N_B4130_provenance.
- NP692705.RALzh2g3NfXeNELdEUhzKNOx-F6o2mFNiFsr7D7N6N_B4130_assertion SIO_000772 9158154 NP692705.RALzh2g3NfXeNELdEUhzKNOx-F6o2mFNiFsr7D7N6N_B4130_provenance.
- NP692705.RALzh2g3NfXeNELdEUhzKNOx-F6o2mFNiFsr7D7N6N_B4130_assertion wasDerivedFrom befree-20150227 NP692705.RALzh2g3NfXeNELdEUhzKNOx-F6o2mFNiFsr7D7N6N_B4130_provenance.
- NP692705.RALzh2g3NfXeNELdEUhzKNOx-F6o2mFNiFsr7D7N6N_B4130_assertion wasGeneratedBy ECO_0000203 NP692705.RALzh2g3NfXeNELdEUhzKNOx-F6o2mFNiFsr7D7N6N_B4130_provenance.
- befree-20150227 importedOn "2015-02-27" NP692705.RALzh2g3NfXeNELdEUhzKNOx-F6o2mFNiFsr7D7N6N_B4130_provenance.