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Q38970382-52FFE6F6-B7A1-4D84-B9D8-2E5107B11327
Q38970382-52FFE6F6-B7A1-4D84-B9D8-2E5107B11327
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http://www.wikidata.org/entity/statement/Q38970382-52FFE6F6-B7A1-4D84-B9D8-2E5107B11327
Benign mitochondrial myopathy with exercise intolerance in a large multigeneration family due to a homoplasmic m.3250T>C mutation in MTTL1.
P2860
Q38970382-52FFE6F6-B7A1-4D84-B9D8-2E5107B11327
BestRank
Statement
http://www.wikidata.org/entity/statement/Q38970382-52FFE6F6-B7A1-4D84-B9D8-2E5107B11327
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Statement
wasDerivedFrom
cb817794123c7770f6c2ee78acd623f9d465ad93
P2860
Pathogenic mitochondrial mt-tRNA(Ala) variants are uniquely associated with isolated myopathy.