Varaico: Literature-Extracted Genetic Variants

Gene:LMNA
Variant:p.K261del1
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LMNA

NM_170707.4:p.K261del1

Associated Papers

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

Clinical spectrum and genetic variations of LMNA-related muscular dystrophies in a large cohort of Chinese patients.

Fan Y et al.

Journal of Medical Genetics, 2021

Emery-Dreifuss muscular dystrophy.

Heller SA et al.

Muscle & Nerve, 2020

31840275 (PubMed )
Supplement: MUS-61-436-s001.docx

Cardiovascular Involvement in Pediatric Laminopathies. Report of Six Patients and Literature Revision.

Baban A et al.

Frontiers in Pediatrics, 2020

Rescue of biosynthesis of nicotinamide adenine dinucleotide protects the heart in cardiomyopathy caused by lamin A/C gene mutation.

Vignier N et al.

Human Molecular Genetics, 2018

Emery-Dreifuss muscular dystrophy: the most recognizable laminopathy.

Madej-Pilarczyk A et al.

Folia Neuropathologica, 2016

Laminopathies in Russian families.

Rudenskaya GE et al.

Clinical Genetics, 2008

The laminopathies: a clinical review.

Rankin J et al.

Clinical Genetics, 2006

Laminopathies: multisystem dystrophy syndromes.

Jacob KN et al.

Molecular Genetics and Metabolism, 2006

[Lamine gene mutations in dilated cardiomyopathy].

Zakliaz'minskaia EV et al.

Kardiologiia, 2005

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."