Varaico: Literature-Extracted Genetic Variants

Gene:LMNA
Variant:p.Q312_L313Splc
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LMNA

NM_170707.4:p.Q312_L313Splc

Associated Papers

High prevalence and distinctive clinical features of LMNA-associated atrioventricular block in young patients.

Chen X et al.

American Heart Journal, 2024

Genotype-Phenotype Correlations in Human Diseases Caused by Mutations of LINC Complex-Associated Genes: A Systematic Review and Meta-Summary.

Storey EC et al.

Cells, 2022

36552829 (PubMed )
Supplement: cells-11-04065-s001.zip › Storey___Fuller_Supplementary_Materials_S2_Data_extraction.xlsx › Lamins

Achieving high-sensitivity for clinical applications using augmented exome sequencing.

Patwardhan A et al.

Genome Medicine, 2015

26269718 (PubMed )
Supplement: 13073_2015_197_MOESM8_ESM.xlsx › Sheet1

Normal and aberrant splicing of LMNA.

Luo YB et al.

Journal of Medical Genetics, 2014

Lamin A/C mutations in dilated cardiomyopathy.

Tesson F et al.

Cardiology Journal, 2014

Long-term outcome and risk stratification in dilated cardiolaminopathies.

Pasotti M et al.

Journal of the American College of Cardiology, 2008

Gene symbol: MLH1.

Kadiyska TK et al.

Human Genetics, 2007

Gene symbol: MUTYH.

Aretz S

Human Genetics, 2007

Lamin mutation location predicts cardiac phenotype severity: combined analysis of the published literature.

Captur G et al.

Open Heart, 0

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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."