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- source_evidence_literature type ECO_0000212 NP1244653.RAzGnwblZdjDdQxpO4-0b8nHB2I9ZSsLhKkXzwEr28k78130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1244653.RAzGnwblZdjDdQxpO4-0b8nHB2I9ZSsLhKkXzwEr28k78130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1244653.RAzGnwblZdjDdQxpO4-0b8nHB2I9ZSsLhKkXzwEr28k78130_provenance.
- NP1244653.RAzGnwblZdjDdQxpO4-0b8nHB2I9ZSsLhKkXzwEr28k78130_assertion description "[Here, we report the presence of biallelic BRCA1 mutations in a woman with multiple congenital anomalies consistent with a Fanconi anemia-like disorder and breast cancer at age 23.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1244653.RAzGnwblZdjDdQxpO4-0b8nHB2I9ZSsLhKkXzwEr28k78130_provenance.
- NP1244653.RAzGnwblZdjDdQxpO4-0b8nHB2I9ZSsLhKkXzwEr28k78130_assertion evidence source_evidence_literature NP1244653.RAzGnwblZdjDdQxpO4-0b8nHB2I9ZSsLhKkXzwEr28k78130_provenance.
- NP1244653.RAzGnwblZdjDdQxpO4-0b8nHB2I9ZSsLhKkXzwEr28k78130_assertion SIO_000772 25472942 NP1244653.RAzGnwblZdjDdQxpO4-0b8nHB2I9ZSsLhKkXzwEr28k78130_provenance.
- NP1244653.RAzGnwblZdjDdQxpO4-0b8nHB2I9ZSsLhKkXzwEr28k78130_assertion wasDerivedFrom befree-2016 NP1244653.RAzGnwblZdjDdQxpO4-0b8nHB2I9ZSsLhKkXzwEr28k78130_provenance.
- NP1244653.RAzGnwblZdjDdQxpO4-0b8nHB2I9ZSsLhKkXzwEr28k78130_assertion wasGeneratedBy ECO_0000203 NP1244653.RAzGnwblZdjDdQxpO4-0b8nHB2I9ZSsLhKkXzwEr28k78130_provenance.
- befree-2016 importedOn "2016-02-19" NP1244653.RAzGnwblZdjDdQxpO4-0b8nHB2I9ZSsLhKkXzwEr28k78130_provenance.