Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP703151.RA68fyjMLVj7mWZETky3vQYgWB3pjOL3efh1vHaV5HGxA130_assertion> ?p ?o ?g. }
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- NP703151.RA68fyjMLVj7mWZETky3vQYgWB3pjOL3efh1vHaV5HGxA130_assertion type Assertion NP703151.RA68fyjMLVj7mWZETky3vQYgWB3pjOL3efh1vHaV5HGxA130_head.
- NP703151.RA68fyjMLVj7mWZETky3vQYgWB3pjOL3efh1vHaV5HGxA130_assertion description "[Germline mutations in the SMARCB1 gene cause familial schwannomatosis, a condition characterized by the presence of multiple schwannomas, although mutations in SMARCB1 have also been associated with rhadboid tumor predisposition syndrome 1 (RTPS1).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP703151.RA68fyjMLVj7mWZETky3vQYgWB3pjOL3efh1vHaV5HGxA130_provenance.
- NP703151.RA68fyjMLVj7mWZETky3vQYgWB3pjOL3efh1vHaV5HGxA130_assertion evidence source_evidence_literature NP703151.RA68fyjMLVj7mWZETky3vQYgWB3pjOL3efh1vHaV5HGxA130_provenance.
- NP703151.RA68fyjMLVj7mWZETky3vQYgWB3pjOL3efh1vHaV5HGxA130_assertion SIO_000772 22752724 NP703151.RA68fyjMLVj7mWZETky3vQYgWB3pjOL3efh1vHaV5HGxA130_provenance.
- NP703151.RA68fyjMLVj7mWZETky3vQYgWB3pjOL3efh1vHaV5HGxA130_assertion wasDerivedFrom befree-20150227 NP703151.RA68fyjMLVj7mWZETky3vQYgWB3pjOL3efh1vHaV5HGxA130_provenance.
- NP703151.RA68fyjMLVj7mWZETky3vQYgWB3pjOL3efh1vHaV5HGxA130_assertion wasGeneratedBy ECO_0000203 NP703151.RA68fyjMLVj7mWZETky3vQYgWB3pjOL3efh1vHaV5HGxA130_provenance.