Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP480223.RAEFG_Q-ABpF6x_jUdMM7MyunpY9S5FF_1TmvTnZN-a8c130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP480223.RAEFG_Q-ABpF6x_jUdMM7MyunpY9S5FF_1TmvTnZN-a8c130_assertion type Assertion NP480223.RAEFG_Q-ABpF6x_jUdMM7MyunpY9S5FF_1TmvTnZN-a8c130_head.
- NP480223.RAEFG_Q-ABpF6x_jUdMM7MyunpY9S5FF_1TmvTnZN-a8c130_assertion description "[One patient was found to have Leigh syndrome due to a mutation in MT-ATP6, two affected siblings were discovered to be compound heterozygous for mutations in the NDUFV1 gene, which causes mitochondrial complex I deficiency, and one patient was found to have coenzyme Q10 deficiency due to compound heterozygous mutations in COQ2.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP480223.RAEFG_Q-ABpF6x_jUdMM7MyunpY9S5FF_1TmvTnZN-a8c130_provenance.
- NP480223.RAEFG_Q-ABpF6x_jUdMM7MyunpY9S5FF_1TmvTnZN-a8c130_assertion evidence source_evidence_literature NP480223.RAEFG_Q-ABpF6x_jUdMM7MyunpY9S5FF_1TmvTnZN-a8c130_provenance.
- NP480223.RAEFG_Q-ABpF6x_jUdMM7MyunpY9S5FF_1TmvTnZN-a8c130_assertion SIO_000772 23631824 NP480223.RAEFG_Q-ABpF6x_jUdMM7MyunpY9S5FF_1TmvTnZN-a8c130_provenance.
- NP480223.RAEFG_Q-ABpF6x_jUdMM7MyunpY9S5FF_1TmvTnZN-a8c130_assertion wasDerivedFrom befree-20140225 NP480223.RAEFG_Q-ABpF6x_jUdMM7MyunpY9S5FF_1TmvTnZN-a8c130_provenance.
- NP480223.RAEFG_Q-ABpF6x_jUdMM7MyunpY9S5FF_1TmvTnZN-a8c130_assertion wasGeneratedBy ECO_0000203 NP480223.RAEFG_Q-ABpF6x_jUdMM7MyunpY9S5FF_1TmvTnZN-a8c130_provenance.