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- source_evidence_literature type ECO_0000212 NP649786.RAUoBA3oFA_6k_C5qfUrmvkxjcF5mRSrfS3r5q31lulqA130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP649786.RAUoBA3oFA_6k_C5qfUrmvkxjcF5mRSrfS3r5q31lulqA130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP649786.RAUoBA3oFA_6k_C5qfUrmvkxjcF5mRSrfS3r5q31lulqA130_provenance.
- NP649786.RAUoBA3oFA_6k_C5qfUrmvkxjcF5mRSrfS3r5q31lulqA130_assertion description "[TSP-5 is of interest because mutations in the gene cause two skeletal dysplasias, pseudoachondroplasia (PSACH) and multiple epiphyseal dysplasia (MED/EDM1).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP649786.RAUoBA3oFA_6k_C5qfUrmvkxjcF5mRSrfS3r5q31lulqA130_provenance.
- NP649786.RAUoBA3oFA_6k_C5qfUrmvkxjcF5mRSrfS3r5q31lulqA130_assertion evidence source_evidence_literature NP649786.RAUoBA3oFA_6k_C5qfUrmvkxjcF5mRSrfS3r5q31lulqA130_provenance.
- NP649786.RAUoBA3oFA_6k_C5qfUrmvkxjcF5mRSrfS3r5q31lulqA130_assertion SIO_000772 18193163 NP649786.RAUoBA3oFA_6k_C5qfUrmvkxjcF5mRSrfS3r5q31lulqA130_provenance.
- NP649786.RAUoBA3oFA_6k_C5qfUrmvkxjcF5mRSrfS3r5q31lulqA130_assertion wasDerivedFrom befree-2016 NP649786.RAUoBA3oFA_6k_C5qfUrmvkxjcF5mRSrfS3r5q31lulqA130_provenance.
- NP649786.RAUoBA3oFA_6k_C5qfUrmvkxjcF5mRSrfS3r5q31lulqA130_assertion wasGeneratedBy ECO_0000203 NP649786.RAUoBA3oFA_6k_C5qfUrmvkxjcF5mRSrfS3r5q31lulqA130_provenance.
- befree-2016 importedOn "2016-02-19" NP649786.RAUoBA3oFA_6k_C5qfUrmvkxjcF5mRSrfS3r5q31lulqA130_provenance.