Varaico: Literature-Extracted Genetic Variants

Gene:CACNB2
Variant:p.S502L
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CACNB2

NM_000724.4:p.S502L

Associated Papers

Clinical and Genetic Features of Korean Inherited Arrhythmia Probands.

Jeong JH et al.

Korean Circulation Journal, 2023

37653714 (PubMed )
Supplement: kcj-53-693-s003.xls › kcj-53-693-s003

Case Report: Exome Sequencing Identified a Novel Frameshift Mutation of α-Actin 1 in a Chinese Family With Macrothrombocytopenia and Mild Bleeding.

Luo FM et al.

Frontiers in Pediatrics, 2021

Identification of predictors of drug sensitivity using patient-derived models of esophageal squamous cell carcinoma.

Su D et al.

Nature Communications, 2019

31700061 (PubMed )
Supplement: 41467_2019_12846_MOESM18_ESM.xlsx › Mutation

CACNB2 Is a Novel Susceptibility Gene for Diabetic Retinopathy in Type 1 Diabetes.

Vuori N et al.

Diabetes, 2019

Next-generation sequencing identifies pathogenic and modifier mutations in a consanguineous Chinese family with hypertrophic cardiomyopathy.

Zhang X et al.

Medicine, 2017

An Autopsy Case of Sudden Unexpected Death of a Young Adult in a Hot Bath: Molecular Analysis Using Next-Generation DNA Sequencing.

Hata Y et al.

Clinical Medicine Insights. Case 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."