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- source_evidence_literature type ECO_0000212 NP1384880.RAXr7I5zXfQ5D15vMy3OySrC51pX-Eusb6vEyE0H6HrHE130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1384880.RAXr7I5zXfQ5D15vMy3OySrC51pX-Eusb6vEyE0H6HrHE130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1384880.RAXr7I5zXfQ5D15vMy3OySrC51pX-Eusb6vEyE0H6HrHE130_provenance.
- NP1384880.RAXr7I5zXfQ5D15vMy3OySrC51pX-Eusb6vEyE0H6HrHE130_assertion description "[An in-frame deletion of 17 amino acids in the second fibronectin type III repeat of integrin beta 4 (delta 17-beta 4) has been associated with junctional epidermolysis bullosa with pyloric atresia (PA-JEB), a genetic disease characterized by altered HD and disadhesion of the epidermis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1384880.RAXr7I5zXfQ5D15vMy3OySrC51pX-Eusb6vEyE0H6HrHE130_provenance.
- NP1384880.RAXr7I5zXfQ5D15vMy3OySrC51pX-Eusb6vEyE0H6HrHE130_assertion evidence source_evidence_literature NP1384880.RAXr7I5zXfQ5D15vMy3OySrC51pX-Eusb6vEyE0H6HrHE130_provenance.
- NP1384880.RAXr7I5zXfQ5D15vMy3OySrC51pX-Eusb6vEyE0H6HrHE130_assertion SIO_000772 9389789 NP1384880.RAXr7I5zXfQ5D15vMy3OySrC51pX-Eusb6vEyE0H6HrHE130_provenance.
- NP1384880.RAXr7I5zXfQ5D15vMy3OySrC51pX-Eusb6vEyE0H6HrHE130_assertion wasDerivedFrom befree-2016 NP1384880.RAXr7I5zXfQ5D15vMy3OySrC51pX-Eusb6vEyE0H6HrHE130_provenance.
- NP1384880.RAXr7I5zXfQ5D15vMy3OySrC51pX-Eusb6vEyE0H6HrHE130_assertion wasGeneratedBy ECO_0000203 NP1384880.RAXr7I5zXfQ5D15vMy3OySrC51pX-Eusb6vEyE0H6HrHE130_provenance.
- befree-2016 importedOn "2016-02-19" NP1384880.RAXr7I5zXfQ5D15vMy3OySrC51pX-Eusb6vEyE0H6HrHE130_provenance.