Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP703225.RAQmdjnN4mo9ouijJqXNTvf_0UoHtq7r_EDgjnqv3Txi0130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP703225.RAQmdjnN4mo9ouijJqXNTvf_0UoHtq7r_EDgjnqv3Txi0130_assertion type Assertion NP703225.RAQmdjnN4mo9ouijJqXNTvf_0UoHtq7r_EDgjnqv3Txi0130_head.
- NP703225.RAQmdjnN4mo9ouijJqXNTvf_0UoHtq7r_EDgjnqv3Txi0130_assertion description "[We identified two germline mutations in SMARCB1 associated with the familial disease, c.233-1G>A and the novel c.207_208dupTA mutation, which both proved to affect the main SMARCB1 isoforms at the RNA level distinctly.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP703225.RAQmdjnN4mo9ouijJqXNTvf_0UoHtq7r_EDgjnqv3Txi0130_provenance.
- NP703225.RAQmdjnN4mo9ouijJqXNTvf_0UoHtq7r_EDgjnqv3Txi0130_assertion evidence source_evidence_literature NP703225.RAQmdjnN4mo9ouijJqXNTvf_0UoHtq7r_EDgjnqv3Txi0130_provenance.
- NP703225.RAQmdjnN4mo9ouijJqXNTvf_0UoHtq7r_EDgjnqv3Txi0130_assertion SIO_000772 22752724 NP703225.RAQmdjnN4mo9ouijJqXNTvf_0UoHtq7r_EDgjnqv3Txi0130_provenance.
- NP703225.RAQmdjnN4mo9ouijJqXNTvf_0UoHtq7r_EDgjnqv3Txi0130_assertion wasDerivedFrom befree-20150227 NP703225.RAQmdjnN4mo9ouijJqXNTvf_0UoHtq7r_EDgjnqv3Txi0130_provenance.
- NP703225.RAQmdjnN4mo9ouijJqXNTvf_0UoHtq7r_EDgjnqv3Txi0130_assertion wasGeneratedBy ECO_0000203 NP703225.RAQmdjnN4mo9ouijJqXNTvf_0UoHtq7r_EDgjnqv3Txi0130_provenance.