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- source_evidence_literature type ECO_0000212 NP333722.RAg9zzQcpTrofJ5UXOsobNxY4ewa7zMimfF6qN7l_lomA130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP333722.RAg9zzQcpTrofJ5UXOsobNxY4ewa7zMimfF6qN7l_lomA130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP333722.RAg9zzQcpTrofJ5UXOsobNxY4ewa7zMimfF6qN7l_lomA130_provenance.
- NP333722.RAg9zzQcpTrofJ5UXOsobNxY4ewa7zMimfF6qN7l_lomA130_assertion description "[Dystrophin, sarcoglycans, and telethonin were normal in all LGMD2B patients, while patients with sarcoglycanopathies (2C, 2D, and 2E), LGMD2A, LGMD2G, and DMD showed the presence of a normal dysferlin band by Western blot and a positive pattern on IF.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP333722.RAg9zzQcpTrofJ5UXOsobNxY4ewa7zMimfF6qN7l_lomA130_provenance.
- NP333722.RAg9zzQcpTrofJ5UXOsobNxY4ewa7zMimfF6qN7l_lomA130_assertion evidence source_evidence_literature NP333722.RAg9zzQcpTrofJ5UXOsobNxY4ewa7zMimfF6qN7l_lomA130_provenance.
- NP333722.RAg9zzQcpTrofJ5UXOsobNxY4ewa7zMimfF6qN7l_lomA130_assertion SIO_000772 11665864 NP333722.RAg9zzQcpTrofJ5UXOsobNxY4ewa7zMimfF6qN7l_lomA130_provenance.
- NP333722.RAg9zzQcpTrofJ5UXOsobNxY4ewa7zMimfF6qN7l_lomA130_assertion wasDerivedFrom befree-2016 NP333722.RAg9zzQcpTrofJ5UXOsobNxY4ewa7zMimfF6qN7l_lomA130_provenance.
- NP333722.RAg9zzQcpTrofJ5UXOsobNxY4ewa7zMimfF6qN7l_lomA130_assertion wasGeneratedBy ECO_0000203 NP333722.RAg9zzQcpTrofJ5UXOsobNxY4ewa7zMimfF6qN7l_lomA130_provenance.
- befree-2016 importedOn "2016-02-19" NP333722.RAg9zzQcpTrofJ5UXOsobNxY4ewa7zMimfF6qN7l_lomA130_provenance.