Varaico: Literature-Extracted Genetic Variants

Gene:CACNA1C
Variant:p.N550S
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CACNA1C

NM_000719.7:p.N550S

Associated Papers

Investigating cardiac genetic background in sudden infant death syndrome (SIDS).

Cazzato F et al.

International Journal of Legal Medicine, 2024

38849547 (PubMed )
Supplement: 414_2024_3264_MOESM1_ESM.xlsx › Foglio1

The importance of variant reinterpretation in inherited cardiovascular diseases: Establishing the optimal timeframe.

Fernandez-Falgueras A et al.

Plos One, 2024

38691546 (PubMed )
Supplement: pone.0297914.s001.xlsx › Hoja1

L-Type Calcium Channel: Predicting Pathogenic/Likely Pathogenic Status for Variants of Uncertain Clinical Significance.

Tarnovskaya SI et al.

Membranes, 2021

34436362 (PubMed )
Supplement: membranes-11-00599-s001.zip › membranes-1307172-supplementary.xlsx › Table_S1

Natural and Undetermined Sudden Death: Value of Post-Mortem Genetic Investigation.

Sanchez O et al.

Plos One, 2016

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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."