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Q38813517-19881E8D-600D-4F4B-8F82-A1352C8516D7
Q38813517-19881E8D-600D-4F4B-8F82-A1352C8516D7
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http://www.wikidata.org/entity/statement/Q38813517-19881E8D-600D-4F4B-8F82-A1352C8516D7
The exome sequencing identified the mutation in YARS2 encoding the mitochondrial tyrosyl-tRNA synthetase as a nuclear modifier for the phenotypic manifestation of Leber's hereditary optic neuropathy-associated mitochondrial DNA mutation.
P2860
Q38813517-19881E8D-600D-4F4B-8F82-A1352C8516D7
BestRank
Statement
http://www.wikidata.org/entity/statement/Q38813517-19881E8D-600D-4F4B-8F82-A1352C8516D7
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wasDerivedFrom
ff9f721d209306f8ca38b67c682f7dc92cef4abe
P2860
Respiratory complex I dysfunction due to mitochondrial DNA mutations shifts the voltage threshold for opening of the permeability transition pore toward resting levels.