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Mutated CACNA1C activates TYMS. 2 / 2

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"TS is caused by mutations of the CACNA1C gene, which encodes L-type calcium channel Ca (V) 1.2."

26301350

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"Timothy Syndrome (TS) is caused by very rare exonic mutations of the CACNA1C gene that produce delayed inactivation of Cav1.2voltage-gated calcium channels during cellular action potentials, with greatly increased influx of calcium into the activated cells."

23979604

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IndraLab

Statements

Mutated CACNA1C activates TYMS. 2 / 2

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