Varaico: Literature-Extracted Genetic Variants

Gene:CACNA1A
Variant:p.S218P
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CACNA1A

NM_001127222.2:p.S218P

Associated Papers

Development of a Clinically Applicable High-Resolution Assay for Sperm Mosaicism.

Wei S et al.

The Journal of Molecular Diagnostics : Jmd, 2025

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."