Varaico: Literature-Extracted Genetic Variants

Gene:CACNA1A
Variant:p.W320*
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CACNA1A

NM_001127222.2:p.W320*

Associated Papers

The genotype-phenotype correlations of the CACNA1A-related neurodevelopmental disorders: a small case series and literature reviews.

Kessi M et al.

Frontiers in Molecular Neuroscience, 2023

37555011 (PubMed )
Supplement: Table_8.docx

The electrophysiological footprint of CACNA1A disorders.

Indelicato E et al.

Journal of Neurology, 2021

Targeting Alternative Splicing as a Potential Therapy for Episodic Ataxia Type 2.

Jaudon F et al.

Biomedicines, 2020

The neuropsychiatric phenotype in CACNA1A mutations: a retrospective single center study and review of the literature.

Indelicato E et al.

European Journal of Neurology, 2019

Mutation Spectrum in the CACNA1A Gene in 49 Patients with Episodic Ataxia.

Sintas C et al.

Scientific Reports, 2017

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."