Varaico: Literature-Extracted Genetic Variants

Gene:LMNA
Variant:p.S334del1
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LMNA

NM_170707.4:p.S334del1

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

Cardiometabolic assessment of lamin A/C gene mutation carriers: a phenotype-genotype correlation.

Kwapich M et al.

Diabetes & Metabolism, 2019

Inflammatory myopathy in the context of an unusual overlapping laminopathy.

Guillín-Amarelle C et al.

Archives of Endocrinology and Metabolism, 2018

Lipodystrophic laminopathies: Diagnostic clues.

Guillín-Amarelle C et al.

Nucleus (austin, Tex.), 2018

Limb-girdle muscular dystrophy with severe heart failure overlapping with lipodystrophy in a patient with LMNA mutation p.Ser334del.

Madej-Pilarczyk A et al.

Journal of Applied Genetics, 2017

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

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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."