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- source_evidence_literature type ECO_0000212 NP1247703.RA8baI8b6fcPSLftrGHcs7yzJuyUZr-JqA1X2NJ7KoP1A130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1247703.RA8baI8b6fcPSLftrGHcs7yzJuyUZr-JqA1X2NJ7KoP1A130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1247703.RA8baI8b6fcPSLftrGHcs7yzJuyUZr-JqA1X2NJ7KoP1A130_provenance.
- NP1247703.RA8baI8b6fcPSLftrGHcs7yzJuyUZr-JqA1X2NJ7KoP1A130_assertion description "[DBS made from SMA-affected individuals showed no SMN1-specific amplification, whereas DBS made from all unaffected carriers and UCB showed SMN1 amplification above a well-defined threshold.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1247703.RA8baI8b6fcPSLftrGHcs7yzJuyUZr-JqA1X2NJ7KoP1A130_provenance.
- NP1247703.RA8baI8b6fcPSLftrGHcs7yzJuyUZr-JqA1X2NJ7KoP1A130_assertion evidence source_evidence_literature NP1247703.RA8baI8b6fcPSLftrGHcs7yzJuyUZr-JqA1X2NJ7KoP1A130_provenance.
- NP1247703.RA8baI8b6fcPSLftrGHcs7yzJuyUZr-JqA1X2NJ7KoP1A130_assertion SIO_000772 25502182 NP1247703.RA8baI8b6fcPSLftrGHcs7yzJuyUZr-JqA1X2NJ7KoP1A130_provenance.
- NP1247703.RA8baI8b6fcPSLftrGHcs7yzJuyUZr-JqA1X2NJ7KoP1A130_assertion wasDerivedFrom befree-2016 NP1247703.RA8baI8b6fcPSLftrGHcs7yzJuyUZr-JqA1X2NJ7KoP1A130_provenance.
- NP1247703.RA8baI8b6fcPSLftrGHcs7yzJuyUZr-JqA1X2NJ7KoP1A130_assertion wasGeneratedBy ECO_0000203 NP1247703.RA8baI8b6fcPSLftrGHcs7yzJuyUZr-JqA1X2NJ7KoP1A130_provenance.
- befree-2016 importedOn "2016-02-19" NP1247703.RA8baI8b6fcPSLftrGHcs7yzJuyUZr-JqA1X2NJ7KoP1A130_provenance.