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Q35080325-72601553-5D11-405A-90D5-9D99D50B9950
Q35080325-72601553-5D11-405A-90D5-9D99D50B9950
BestRank
Statement
http://www.wikidata.org/entity/statement/Q35080325-72601553-5D11-405A-90D5-9D99D50B9950
Aberrant mitochondria in a Bethlem myopathy patient with a homozygous amino acid substitution that destabilizes the collagen VI α2(VI) chain.
P2860
Q35080325-72601553-5D11-405A-90D5-9D99D50B9950
BestRank
Statement
http://www.wikidata.org/entity/statement/Q35080325-72601553-5D11-405A-90D5-9D99D50B9950
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wasDerivedFrom
b06728b06e3e405777e3395ad584387998f6861d
P2860
Recessive COL6A2 C-globular missense mutations in Ullrich congenital muscular dystrophy: role of the C2a splice variant.