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Q52087924-2D8C96C3-55B7-4E9A-8791-4A9195E2B17A
Q52087924-2D8C96C3-55B7-4E9A-8791-4A9195E2B17A
BestRank
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http://www.wikidata.org/entity/statement/Q52087924-2D8C96C3-55B7-4E9A-8791-4A9195E2B17A
De novo pathogenic variant in TUBB2A presenting with arthrogryposis multiplex congenita, brain abnormalities, and severe developmental delay.
P2860
Q52087924-2D8C96C3-55B7-4E9A-8791-4A9195E2B17A
BestRank
Statement
http://www.wikidata.org/entity/statement/Q52087924-2D8C96C3-55B7-4E9A-8791-4A9195E2B17A
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wasDerivedFrom
cd8087c107a5d557fdec98fe82f139fc5e58a6df
P2860
Mutation of the iron-sulfur cluster assembly gene IBA57 causes severe myopathy and encephalopathy.