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1
Q38940737-B29CC5BF-6AF2-4062-B71A-E0E82D5B92CA
Q38940737-B29CC5BF-6AF2-4062-B71A-E0E82D5B92CA
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Statement
http://www.wikidata.org/entity/statement/Q38940737-B29CC5BF-6AF2-4062-B71A-E0E82D5B92CA
ECHS1 mutations cause combined respiratory chain deficiency resulting in Leigh syndrome.
P2860
Q38940737-B29CC5BF-6AF2-4062-B71A-E0E82D5B92CA
BestRank
Statement
http://www.wikidata.org/entity/statement/Q38940737-B29CC5BF-6AF2-4062-B71A-E0E82D5B92CA
rank
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wasDerivedFrom
72e0c17f50f0ed58e2059f525f4cae0909489f68
P2860
A homozygous mutation of C12orf65 causes spastic paraplegia with optic atrophy and neuropathy (SPG55).