Varaico: Literature-Extracted Genetic Variants

Gene:LMNA
Variant:p.L320delFs
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LMNA

NM_170707.4:p.L320delFs

Associated Papers

The structure and function of lamin A/C: Special focus on cardiomyopathy and therapeutic interventions.

Tiwari V et al.

Life Sciences, 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

Laminopathies' Treatments Systematic Review: A Contribution Towards a 'Treatabolome'.

Atalaia A et al.

Journal of Neuromuscular Diseases, 2021

33682723 (PubMed )
Supplement: jnd-8-jnd200596-s002.xlsx › Sheet1

Actionable Exomic Secondary Findings in 280 Lebanese Participants.

Jalkh N et al.

Frontiers in Genetics, 2020

Cardiac and Neuromuscular Features of Patients With LMNA-Related Cardiomyopathy.

Peretto G et al.

Annals of Internal Medicine, 2019

Exploring the Crosstalk Between LMNA and Splicing Machinery Gene Mutations in Dilated Cardiomyopathy.

Zahr HC et al.

Frontiers in Genetics, 2018

Emery-Dreifuss muscular dystrophy: the most recognizable laminopathy.

Madej-Pilarczyk A et al.

Folia Neuropathologica, 2016

Lamin A/C mutations in dilated cardiomyopathy.

Tesson F et al.

Cardiology Journal, 2014

[LMNA gene and dilated cardiomyopathy].

Sun LP et al.

Zhonghua Xin Xue Guan Bing Za Zhi, 2009

The laminopathies: a clinical review.

Rankin J et al.

Clinical Genetics, 2006

Cardiac features of Emery-Dreifuss muscular dystrophy caused by lamin A/C gene mutations.

Sanna T et al.

European Heart Journal, 2003

Natural history of dilated cardiomyopathy due to lamin A/C gene mutations.

Taylor MR et al.

Journal of the American College of Cardiology, 2003

Mutations in the LMNA gene encoding lamin A/C.

Genschel J et al.

Human Mutation, 2000

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

Captur G et al.

Open Heart, 0

30402260 (PubMed )
Supplement: openhrt-2018-000915supp001.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."