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KCNMA1 activates PNKD. 2 / 2

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"Particularly, GOF variants of KCNMA1 have been reported to cause both early-onset PNKD and PKD, associated with epilepsy or developmental delay [48]."

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"XREF_BIBR, XREF_BIBR Mutations in solute carrier family 2, member 1 (SLC2A1), myofibrillogenesis regulator 1 (MR-1), and calcium activated potassium channel alpha subunit (KCNMA1) have been proven to cause PED and PNKD."

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KCNMA1 activates PNKD. 2 / 2

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