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2
Q47122284-63BCF806-33B2-48C2-8D99-6E53B39018B1
Q47122284-63BCF806-33B2-48C2-8D99-6E53B39018B1
BestRank
Statement
http://www.wikidata.org/entity/statement/Q47122284-63BCF806-33B2-48C2-8D99-6E53B39018B1
Biallelic C1QBP Mutations Cause Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies.
P2860
Q47122284-63BCF806-33B2-48C2-8D99-6E53B39018B1
BestRank
Statement
http://www.wikidata.org/entity/statement/Q47122284-63BCF806-33B2-48C2-8D99-6E53B39018B1
rank
NormalRank
type
BestRank
Statement
wasDerivedFrom
b7f487d2aea51a707ab1435b3296d465a05b486a
P2860
A truncating PET100 variant causing fatal infantile lactic acidosis and isolated cytochrome c oxidase deficiency.