Varaico: Literature-Extracted Genetic Variants

Gene:LMNA
Variant:p.L306R
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LMNA

NM_170707.4:p.L306R

Associated Papers

Cardiac phenotypes in LMNA mutations.

Rouhi L

Current Opinion in Cardiology, 2025

Intermediate filaments in the heart: The dynamic duo of desmin and lamins orchestrates mechanical force transmission.

West G et al.

Current Opinion in Cell Biology, 2023

Desmosomal Arrhythmogenic Cardiomyopathy: The Story Telling of a Genetically Determined Heart Muscle Disease.

Thiene G et al.

Biomedicines, 2023

Characterization of cardiac involvement in children with LMNA-related muscular dystrophy.

Cesar S et al.

Frontiers in Cell and Developmental Biology, 2023

Insights Into Genetics and Pathophysiology of Arrhythmogenic Cardiomyopathy.

Gerull B et al.

Current Heart Failure Reports, 2021

PEDIA: prioritization of exome data by image analysis.

Hsieh TC et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019

31164752 (PubMed )
Supplement: 41436_2019_566_MOESM2_ESM.xlsx › Sheet1

Current insights into LMNA cardiomyopathies: Existing models and missing LINCs.

Brayson D et al.

Nucleus (austin, Tex.), 2017

Deleterious assembly of the lamin A/C mutant p.S143P causes ER stress in familial dilated cardiomyopathy.

West G et al.

Journal of Cell Science, 2016

LMNA Mutation c.917T>G (p.L306R) Leads to Deleterious Hyper-Assembly of Lamin A/C and Associates with Severe Right Ventricular Cardiomyopathy and Premature Aging.

Alastalo TP et al.

Human Mutation, 2015

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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."