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- source_evidence_literature type ECO_0000212 NP902947.RA_RjM6V82YXu9lbZw_4sa6QZ1-jml9Xrtd2eGEIsfnEk130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP902947.RA_RjM6V82YXu9lbZw_4sa6QZ1-jml9Xrtd2eGEIsfnEk130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP902947.RA_RjM6V82YXu9lbZw_4sa6QZ1-jml9Xrtd2eGEIsfnEk130_provenance.
- befree-2016 importedOn "2016-02-19" NP902947.RA_RjM6V82YXu9lbZw_4sa6QZ1-jml9Xrtd2eGEIsfnEk130_provenance.
- NP902947.RA_RjM6V82YXu9lbZw_4sa6QZ1-jml9Xrtd2eGEIsfnEk130_assertion wasGeneratedBy ECO_0000203 NP902947.RA_RjM6V82YXu9lbZw_4sa6QZ1-jml9Xrtd2eGEIsfnEk130_provenance.
- NP902947.RA_RjM6V82YXu9lbZw_4sa6QZ1-jml9Xrtd2eGEIsfnEk130_assertion wasDerivedFrom befree-2016 NP902947.RA_RjM6V82YXu9lbZw_4sa6QZ1-jml9Xrtd2eGEIsfnEk130_provenance.
- NP902947.RA_RjM6V82YXu9lbZw_4sa6QZ1-jml9Xrtd2eGEIsfnEk130_assertion SIO_000772 21683322 NP902947.RA_RjM6V82YXu9lbZw_4sa6QZ1-jml9Xrtd2eGEIsfnEk130_provenance.
- NP902947.RA_RjM6V82YXu9lbZw_4sa6QZ1-jml9Xrtd2eGEIsfnEk130_assertion evidence source_evidence_literature NP902947.RA_RjM6V82YXu9lbZw_4sa6QZ1-jml9Xrtd2eGEIsfnEk130_provenance.
- NP902947.RA_RjM6V82YXu9lbZw_4sa6QZ1-jml9Xrtd2eGEIsfnEk130_assertion description "[Although enhanced TGFβ signaling caused by FBN1 mutations can trigger either Marfan syndrome or GD and AD, our findings support the fact that TB5 mutations in FBN1 are responsible for short stature phenotypes.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP902947.RA_RjM6V82YXu9lbZw_4sa6QZ1-jml9Xrtd2eGEIsfnEk130_provenance.