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Q38816704-8AC2CBE6-E072-4092-AE6D-200C0E385188
Q38816704-8AC2CBE6-E072-4092-AE6D-200C0E385188
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http://www.wikidata.org/entity/statement/Q38816704-8AC2CBE6-E072-4092-AE6D-200C0E385188
A homozygous missense mutation in ERAL1, encoding a mitochondrial rRNA chaperone, causes Perrault syndrome.
P2860
Q38816704-8AC2CBE6-E072-4092-AE6D-200C0E385188
BestRank
Statement
http://www.wikidata.org/entity/statement/Q38816704-8AC2CBE6-E072-4092-AE6D-200C0E385188
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wasDerivedFrom
dc31ffdcace30a4155d8716a7aee21f4c6ad1c0d
P2860
Perrault syndrome is caused by recessive mutations in CLPP, encoding a mitochondrial ATP-dependent chambered protease