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1
Q38367257-7059E3CB-E4C5-487C-BC90-3D76FD28F376
Q38367257-7059E3CB-E4C5-487C-BC90-3D76FD28F376
BestRank
Statement
http://www.wikidata.org/entity/statement/Q38367257-7059E3CB-E4C5-487C-BC90-3D76FD28F376
Complex III deficiency due to an in-frame MT-CYB deletion presenting as ketotic hypoglycemia and lactic acidosis.
P2860
Q38367257-7059E3CB-E4C5-487C-BC90-3D76FD28F376
BestRank
Statement
http://www.wikidata.org/entity/statement/Q38367257-7059E3CB-E4C5-487C-BC90-3D76FD28F376
rank
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type
BestRank
Statement
wasDerivedFrom
1eb857c6fd5ae3ec2e479c28c1b63fc0629dbc8b
P2860
A novel in-frame 18-bp microdeletion in MT-CYB causes a multisystem disorder with prominent exercise intolerance.