Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP541552.RALZ956C09FCjy9EOagVo2FjziC86Bn7hsLu8E4Srl650130_assertion> ?p ?o ?g. }
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- NP541552.RALZ956C09FCjy9EOagVo2FjziC86Bn7hsLu8E4Srl650130_assertion type Assertion NP541552.RALZ956C09FCjy9EOagVo2FjziC86Bn7hsLu8E4Srl650130_head.
- NP541552.RALZ956C09FCjy9EOagVo2FjziC86Bn7hsLu8E4Srl650130_assertion description "[The assays designed here recognize a 2502 base pair deletion in the Nebulin (NEB) gene that results in Nemaline Myopathy, a 308,769 base pair deletion in the Gap Junction Protein, beta 6 (GJB6) gene that causes Hearing Loss, and a 6433 base pair deletion in the Mucolipin 1 (MCOLN1) gene responsible for causing Mucolipidosis IV Disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP541552.RALZ956C09FCjy9EOagVo2FjziC86Bn7hsLu8E4Srl650130_provenance.
- NP541552.RALZ956C09FCjy9EOagVo2FjziC86Bn7hsLu8E4Srl650130_assertion evidence source_evidence_literature NP541552.RALZ956C09FCjy9EOagVo2FjziC86Bn7hsLu8E4Srl650130_provenance.
- NP541552.RALZ956C09FCjy9EOagVo2FjziC86Bn7hsLu8E4Srl650130_assertion SIO_000772 22281206 NP541552.RALZ956C09FCjy9EOagVo2FjziC86Bn7hsLu8E4Srl650130_provenance.
- NP541552.RALZ956C09FCjy9EOagVo2FjziC86Bn7hsLu8E4Srl650130_assertion wasDerivedFrom befree-20140225 NP541552.RALZ956C09FCjy9EOagVo2FjziC86Bn7hsLu8E4Srl650130_provenance.
- NP541552.RALZ956C09FCjy9EOagVo2FjziC86Bn7hsLu8E4Srl650130_assertion wasGeneratedBy ECO_0000203 NP541552.RALZ956C09FCjy9EOagVo2FjziC86Bn7hsLu8E4Srl650130_provenance.