Varaico: Literature-Extracted Genetic Variants

Gene:LMNA
Variant:p.Q246delFs
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LMNA

NM_170707.4:p.Q246delFs

Associated Papers

Overlap phenotypes of the left ventricular noncompaction and hypertrophic cardiomyopathy with complex arrhythmias and heart failure induced by the novel truncated DSC2 mutation.

Lin Y et al.

Orphanet Journal of Rare Diseases, 2021

Systematic large-scale assessment of the genetic architecture of left ventricular noncompaction reveals diverse etiologies.

Mazzarotto F et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021

33500567 (PubMed )
Supplement: 41436_2020_1049_MOESM2_ESM.xlsx › Table_S2

A fast and cost-effective molecular diagnostic tool for genetic diseases involved in sudden cardiac death.

Chanavat V et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2016

Evaluation of a new NGS method based on a custom AmpliSeq library and Ion Torrent PGM sequencing for the fast detection of genetic variations in cardiomyopathies.

Millat G et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2014

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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."