Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP616001.RAr-Nm6Lkw80aQrBZHDN0ss_azvAYuepz1kF_jDvpk6IA130_assertion> ?p ?o ?g. }
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- NP616001.RAr-Nm6Lkw80aQrBZHDN0ss_azvAYuepz1kF_jDvpk6IA130_assertion type Assertion NP616001.RAr-Nm6Lkw80aQrBZHDN0ss_azvAYuepz1kF_jDvpk6IA130_head.
- NP616001.RAr-Nm6Lkw80aQrBZHDN0ss_azvAYuepz1kF_jDvpk6IA130_assertion description "[We identified a heterozygous receptor accessory protein 1 (REEP1) exon 2 deletion in a patient suffering from the autosomal dominantly inherited HSP variant SPG31.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP616001.RAr-Nm6Lkw80aQrBZHDN0ss_azvAYuepz1kF_jDvpk6IA130_provenance.
- NP616001.RAr-Nm6Lkw80aQrBZHDN0ss_azvAYuepz1kF_jDvpk6IA130_assertion evidence source_evidence_literature NP616001.RAr-Nm6Lkw80aQrBZHDN0ss_azvAYuepz1kF_jDvpk6IA130_provenance.
- NP616001.RAr-Nm6Lkw80aQrBZHDN0ss_azvAYuepz1kF_jDvpk6IA130_assertion SIO_000772 24051375 NP616001.RAr-Nm6Lkw80aQrBZHDN0ss_azvAYuepz1kF_jDvpk6IA130_provenance.
- NP616001.RAr-Nm6Lkw80aQrBZHDN0ss_azvAYuepz1kF_jDvpk6IA130_assertion wasDerivedFrom befree-20140225 NP616001.RAr-Nm6Lkw80aQrBZHDN0ss_azvAYuepz1kF_jDvpk6IA130_provenance.
- NP616001.RAr-Nm6Lkw80aQrBZHDN0ss_azvAYuepz1kF_jDvpk6IA130_assertion wasGeneratedBy ECO_0000203 NP616001.RAr-Nm6Lkw80aQrBZHDN0ss_azvAYuepz1kF_jDvpk6IA130_provenance.