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- source_evidence_literature type ECO_0000212 NP973348.RAV9iTTdUdQW9Szd6YWo6NmbUi3P-4NrZpLB8vT-rU3cU130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP973348.RAV9iTTdUdQW9Szd6YWo6NmbUi3P-4NrZpLB8vT-rU3cU130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP973348.RAV9iTTdUdQW9Szd6YWo6NmbUi3P-4NrZpLB8vT-rU3cU130_provenance.
- NP973348.RAV9iTTdUdQW9Szd6YWo6NmbUi3P-4NrZpLB8vT-rU3cU130_assertion description "[Familial spherophakia with short stature caused by a novel homozygous ADAMTS17 mutation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP973348.RAV9iTTdUdQW9Szd6YWo6NmbUi3P-4NrZpLB8vT-rU3cU130_provenance.
- NP973348.RAV9iTTdUdQW9Szd6YWo6NmbUi3P-4NrZpLB8vT-rU3cU130_assertion evidence source_evidence_literature NP973348.RAV9iTTdUdQW9Szd6YWo6NmbUi3P-4NrZpLB8vT-rU3cU130_provenance.
- NP973348.RAV9iTTdUdQW9Szd6YWo6NmbUi3P-4NrZpLB8vT-rU3cU130_assertion SIO_000772 22486325 NP973348.RAV9iTTdUdQW9Szd6YWo6NmbUi3P-4NrZpLB8vT-rU3cU130_provenance.
- NP973348.RAV9iTTdUdQW9Szd6YWo6NmbUi3P-4NrZpLB8vT-rU3cU130_assertion wasDerivedFrom befree-2016 NP973348.RAV9iTTdUdQW9Szd6YWo6NmbUi3P-4NrZpLB8vT-rU3cU130_provenance.
- NP973348.RAV9iTTdUdQW9Szd6YWo6NmbUi3P-4NrZpLB8vT-rU3cU130_assertion wasGeneratedBy ECO_0000203 NP973348.RAV9iTTdUdQW9Szd6YWo6NmbUi3P-4NrZpLB8vT-rU3cU130_provenance.
- befree-2016 importedOn "2016-02-19" NP973348.RAV9iTTdUdQW9Szd6YWo6NmbUi3P-4NrZpLB8vT-rU3cU130_provenance.