Varaico: Literature-Extracted Genetic Variants

Gene:LMNA
Variant:p.L512P
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LMNA

NM_170707.4:p.L512P

Associated Papers

Major arrhythmias in non-dilated left ventricular cardiomyopathy: a novel prediction score.

Peretto G et al.

European Heart Journal, 2026

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

Most myopathic lamin variants aggregate: a functional genomics approach for assessing variants of uncertain significance.

Anderson CL et al.

Npj Genomic Medicine, 2021

34862408 (PubMed )
Supplement: 41525_2021_265_MOESM1_ESM.pdf

Diabetes mellitus coexisted with progeria: a case report of atypical Werner syndrome with novel LMNA mutations and literature review.

He G et al.

Endocrine Journal, 2019

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

Peretto G et al.

Annals of Internal Medicine, 2019

LMNA Sequences of 60,706 Unrelated Individuals Reveal 132 Novel Missense Variants in A-Type Lamins and Suggest a Link between Variant p.G602S and Type 2 Diabetes.

Florwick A et al.

Frontiers in Genetics, 2017

28663758 (PubMed )
Supplement: Table_2.XLSX › Sheet1

Emery-Dreifuss muscular dystrophy: the most recognizable laminopathy.

Madej-Pilarczyk A et al.

Folia Neuropathologica, 2016

Systematic identification of pathological lamin A interactors.

Dittmer TA et al.

Molecular Biology of the Cell, 2014

Overlapping syndromes in laminopathies: a meta-analysis of the reported literature.

Carboni N et al.

Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology, 2013

The PMP22 gene and its related diseases.

Li J et al.

Molecular Neurobiology, 2013

Protein profiling reveals energy metabolism and cytoskeletal protein alterations in LMNA mutation carriers.

Magagnotti C et al.

Biochimica Et Biophysica Acta, 2012

Genotype-phenotype correlations in laminopathies: how does fate translate?

Scharner J et al.

Biochemical Society Transactions, 2010

A patient with both Charcot-Marie-Tooth disease (CMT 1A) and mild spinal muscular atrophy (SMA 3).

Jedrzejowska M et al.

Neuromuscular Disorders : Nmd, 2008

Phenotypic clustering of lamin A/C mutations in neuromuscular patients.

Benedetti S et al.

Neurology, 2007

The laminopathies: a clinical review.

Rankin J et al.

Clinical Genetics, 2006

Co-segregation of LMNA and PMP22 gene mutations in the same family.

Pegoraro E et al.

Neuromuscular Disorders : Nmd, 2005

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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."