Varaico: Literature-Extracted Genetic Variants

Gene:CACNA1A
Variant:p.L1344P
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CACNA1A

NM_001127222.2:p.L1344P

Associated Papers

A Longitudinal Exploration of CACNA1A -related Hemiplegic Migraine in Children.

Schaare D et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

Clinical variants paired with phenotype: A rich resource for brain gene curation.

Chopra M et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2024

38059438 (PubMed )
Supplement: NIHMS1951004-supplement-1.xlsx › All_Variants

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_2.docx

Clinical and genetic characterization of CACNA1A-related disease.

Lipman AR et al.

Clinical Genetics, 2022

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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."