Varaico: Literature-Extracted Genetic Variants

Gene:LMNA
Variant:p.E138*
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LMNA

NM_170707.4:p.E138*

Associated Papers

High diagnostic yield of targeted next-generation sequencing panel as a first-tier molecular test for the patients with myopathy or muscular dystrophy.

Çavdarlı B et al.

Annals of Human Genetics, 2023

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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."