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Q41661800-5164AE31-4171-4770-94D7-317BAA020B1C
Q41661800-5164AE31-4171-4770-94D7-317BAA020B1C
BestRank
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http://www.wikidata.org/entity/statement/Q41661800-5164AE31-4171-4770-94D7-317BAA020B1C
Homozygous p.(Glu87Lys) variant in ISCA1 is associated with a multiple mitochondrial dysfunctions syndrome.
P2860
Q41661800-5164AE31-4171-4770-94D7-317BAA020B1C
BestRank
Statement
http://www.wikidata.org/entity/statement/Q41661800-5164AE31-4171-4770-94D7-317BAA020B1C
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wasDerivedFrom
667828f9c6911afecf2513931979ecc395fa28ed
P2860
Mutation of the iron-sulfur cluster assembly gene IBA57 causes severe myopathy and encephalopathy.