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1
Q45070374-E3C7DEC9-AFD2-4CBD-8B26-030E3FE0CF9A
Q45070374-E3C7DEC9-AFD2-4CBD-8B26-030E3FE0CF9A
BestRank
Statement
http://www.wikidata.org/entity/statement/Q45070374-E3C7DEC9-AFD2-4CBD-8B26-030E3FE0CF9A
A novel inborn error of the coenzyme Q10 biosynthesis pathway: cerebellar ataxia and static encephalomyopathy due to COQ5 C-methyltransferase deficiency.
P2860
Q45070374-E3C7DEC9-AFD2-4CBD-8B26-030E3FE0CF9A
BestRank
Statement
http://www.wikidata.org/entity/statement/Q45070374-E3C7DEC9-AFD2-4CBD-8B26-030E3FE0CF9A
rank
NormalRank
type
BestRank
Statement
wasDerivedFrom
c32a66ba7fa38300e218f764c31077746e8ae283
P2860
Mutations in human homologue of chicken talpid3 gene (KIAA0586) cause a hybrid ciliopathy with overlapping features of Jeune and Joubert syndromes