IndraLab

Statements



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"Pathogenic, generally loss-of-function, variants in CACNA1F, encoding the Ca v 1.4alpha 1 calcium channel, underlie congenital stationary night blindness type 2 (CSNB2), a rare inherited retinal disorder associated with visual disability."

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"Mutation of the calcium channel gene Cacna1f disrupts calcium signaling, synaptic transmission and cellular organization in mouse retina."

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"In the majority of cases, recessive X linked mutations in CACNA1F abolish or decrease Cav1.4 calcium current density."