Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP32957.RA-EYxsGIrzRh4r5zIm3c6HE7Qs_uvCeQA8gygdq4i7H8130_assertion> ?p ?o ?g. }
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- NP32957.RA-EYxsGIrzRh4r5zIm3c6HE7Qs_uvCeQA8gygdq4i7H8130_assertion type Assertion NP32957.RA-EYxsGIrzRh4r5zIm3c6HE7Qs_uvCeQA8gygdq4i7H8130_head.
- NP32957.RA-EYxsGIrzRh4r5zIm3c6HE7Qs_uvCeQA8gygdq4i7H8130_assertion description "[Most importantly, we discovered that TRRAP harbored a recurrent mutation that clustered in one position (p. Ser722Phe) in 6 out of 167 affected individuals (4%), as well as a previously unidentified gene, GRIN2A, which was mutated in 33% of melanoma samples.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP32957.RA-EYxsGIrzRh4r5zIm3c6HE7Qs_uvCeQA8gygdq4i7H8130_provenance.
- NP32957.RA-EYxsGIrzRh4r5zIm3c6HE7Qs_uvCeQA8gygdq4i7H8130_assertion evidence source_evidence_curated NP32957.RA-EYxsGIrzRh4r5zIm3c6HE7Qs_uvCeQA8gygdq4i7H8130_provenance.
- NP32957.RA-EYxsGIrzRh4r5zIm3c6HE7Qs_uvCeQA8gygdq4i7H8130_assertion SIO_000772 21499247 NP32957.RA-EYxsGIrzRh4r5zIm3c6HE7Qs_uvCeQA8gygdq4i7H8130_provenance.
- NP32957.RA-EYxsGIrzRh4r5zIm3c6HE7Qs_uvCeQA8gygdq4i7H8130_assertion wasDerivedFrom ctd_human-20130708 NP32957.RA-EYxsGIrzRh4r5zIm3c6HE7Qs_uvCeQA8gygdq4i7H8130_provenance.
- NP32957.RA-EYxsGIrzRh4r5zIm3c6HE7Qs_uvCeQA8gygdq4i7H8130_assertion wasGeneratedBy ECO_0000218 NP32957.RA-EYxsGIrzRh4r5zIm3c6HE7Qs_uvCeQA8gygdq4i7H8130_provenance.