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- source_evidence_literature type ECO_0000212 NP944611.RACPYGP0qryOzpyziG47Gdr8gFRFyLz-2E1ALRlicvhMk130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP944611.RACPYGP0qryOzpyziG47Gdr8gFRFyLz-2E1ALRlicvhMk130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP944611.RACPYGP0qryOzpyziG47Gdr8gFRFyLz-2E1ALRlicvhMk130_provenance.
- befree-20150227 importedOn "2015-02-27" NP944611.RACPYGP0qryOzpyziG47Gdr8gFRFyLz-2E1ALRlicvhMk130_provenance.
- NP944611.RACPYGP0qryOzpyziG47Gdr8gFRFyLz-2E1ALRlicvhMk130_assertion wasGeneratedBy ECO_0000203 NP944611.RACPYGP0qryOzpyziG47Gdr8gFRFyLz-2E1ALRlicvhMk130_provenance.
- NP944611.RACPYGP0qryOzpyziG47Gdr8gFRFyLz-2E1ALRlicvhMk130_assertion wasDerivedFrom befree-20150227 NP944611.RACPYGP0qryOzpyziG47Gdr8gFRFyLz-2E1ALRlicvhMk130_provenance.
- NP944611.RACPYGP0qryOzpyziG47Gdr8gFRFyLz-2E1ALRlicvhMk130_assertion SIO_000772 20220177 NP944611.RACPYGP0qryOzpyziG47Gdr8gFRFyLz-2E1ALRlicvhMk130_provenance.
- NP944611.RACPYGP0qryOzpyziG47Gdr8gFRFyLz-2E1ALRlicvhMk130_assertion evidence source_evidence_literature NP944611.RACPYGP0qryOzpyziG47Gdr8gFRFyLz-2E1ALRlicvhMk130_provenance.
- NP944611.RACPYGP0qryOzpyziG47Gdr8gFRFyLz-2E1ALRlicvhMk130_assertion description "[We identified and validated compound, heterozygous, causative alleles in SH3TC2 (the SH3 domain and tetratricopeptide repeats 2 gene), involving two mutations, in the proband and in family members affected by Charcot-Marie-Tooth disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP944611.RACPYGP0qryOzpyziG47Gdr8gFRFyLz-2E1ALRlicvhMk130_provenance.