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Article

An autism-associated calcium channel variant causes defects in neuronal polarity and axon termination in the ALM neuron of <i>C. elegans</i>

2020-09-12

Abstract excerpt

Variants of the CACNA1C voltage-gated calcium channel gene have been associated with autism and other neurodevelopmental disorders including bipolar disorder, schizophrenia, and ADHD. The Timothy syndrome mutation is a rare de novo gain-of-function variant in CACNA1C that causes autism with high penetrance, providing a powerful avenue into investigating the role of CACNA1C variants in neurodevelopmental disord...

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Literature Corpus work
ff26b466-a174-511d-bcdf-cad38b28848c
DOI
10.1101/2020.09.11.292003
Open publication

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