Varaico: Literature-Extracted Genetic Variants

Gene:CACNB2
Variant:p.Q40_S41Splc
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CACNB2

NM_201596.3:p.Q40_S41Splc

Associated Papers

Whole genome sequencing of families diagnosed with cardiac channelopathies reveals structural variants missed by whole exome sequencing.

Senthivel V et al.

Journal of Human Genetics, 2024

1029 genomes of self-declared healthy individuals from India reveal prevalent and clinically relevant cardiac ion channelopathy variants.

Bajaj A et al.

Human Genomics, 2022

35932045 (PubMed )
Supplement: 40246_2022_402_MOESM6_ESM.xlsx › Additional_File_6

Workflow for the Implementation of Precision Genomics in Healthcare.

Mehandziska S et al.

Frontiers in Genetics, 2020

32695137 (PubMed )
Supplement: Data_Sheet_2.XLSX › Potentially_pathogenic_VUS

Putative role of Brugada syndrome genes in familial atrial fibrillation.

Maltese PE et al.

European Review for Medical and Pharmacological Sciences, 2019

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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."