Varaico: Literature-Extracted Genetic Variants

Gene:CACNA1C
Variant:p.S405R
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CACNA1C

NM_000719.7:p.S405R

Associated Papers

A Natural History Study of Timothy Syndrome.

Timothy KW et al.

Orphanet Journal of Rare Diseases, 2024

A Natural History Study of Timothy Syndrome.

Timothy KW et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

Calcium channelopathies and intellectual disability: a systematic review.

Kessi M et al.

Orphanet Journal of Rare Diseases, 2021

33985586 (PubMed )
Supplement: 13023_2021_1850_MOESM2_ESM.docx

Update on the Molecular Genetics of Timothy Syndrome.

Bauer R et al.

Frontiers in Pediatrics, 2021

Clinical characterization and outcome of prolonged heart rate-corrected QT interval among children with syndactyly.

Han H et al.

Medicine, 2020

Clinical Outcomes and Modes of Death in Timothy Syndrome: A Multicenter International Study of a Rare Disorder.

Dufendach KA et al.

Jacc. Clinical Electrophysiology, 2018

Clinical and genetic features of Australian families with long QT syndrome: A registry-based study.

Burns C et al.

Journal of Arrhythmia, 2016

27920829 (PubMed )
Supplement: mmc2.docx
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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."