Varaico: Literature-Extracted Genetic Variants

Gene:LMNA
Variant:p.E381delFs
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LMNA

NM_170707.4:p.E381delFs

Associated Papers

Achieving high-sensitivity for clinical applications using augmented exome sequencing.

Patwardhan A et al.

Genome Medicine, 2015

26269718 (PubMed )
Supplement: 13073_2015_197_MOESM8_ESM.xlsx › Sheet1

Blood glutathione decrease in subjects carrying lamin A/C gene mutations is an early marker of cardiac involvement.

Meune C et al.

Neuromuscular Disorders : Nmd, 2012

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."