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OMIM 601005 activates mutated CACNA1C. 1 / 1

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"Activating mutations of CACNA1C gene are associated with Timothy syndrome (OMIM 601005), a multisystem disorder characterized by cardiac, hand and foot, facial, and neurodevelopmental features."

21144913

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IndraLab

Statements

OMIM 601005 activates mutated CACNA1C. 1 / 1

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