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1
035e8567f5f9f6d5758dc3d2c2aa6e2e6714a956
035e8567f5f9f6d5758dc3d2c2aa6e2e6714a956
Reference
http://www.wikidata.org/reference/035e8567f5f9f6d5758dc3d2c2aa6e2e6714a956
Q55784832-B5B9A1C8-59EC-42BD-AD93-81D2A196BF23
wasDerivedFrom
035e8567f5f9f6d5758dc3d2c2aa6e2e6714a956
Reference
http://www.wikidata.org/reference/035e8567f5f9f6d5758dc3d2c2aa6e2e6714a956
type
Reference
P248
Mutation in the nuclear-encoded mitochondrial isoleucyl-tRNA synthetase IARS2 in patients with cataracts, growth hormone deficiency with short stature, partial sensorineural deafness, and peripheral neuropathy or with Leigh syndrome.