Varaico: Literature-Extracted Genetic Variants

Gene:LMNA
Variant:p.M1T
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LMNA

NM_170707.4:p.M1T

Associated Papers

Protein structural and mechanistic basis of progeroid laminopathies.

Marcelot A et al.

The Febs Journal, 2021

A targeted antisense therapeutic approach for Hutchinson-Gilford progeria syndrome.

Erdos MR et al.

Nature Medicine, 2021

Emery-Dreifuss muscular dystrophy.

Heller SA et al.

Muscle & Nerve, 2020

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

Emery-Dreifuss muscular dystrophy: the most recognizable laminopathy.

Madej-Pilarczyk A et al.

Folia Neuropathologica, 2016

The FBN2 gene: new mutations, locus-specific database (Universal Mutation Database FBN2), and genotype-phenotype correlations.

Frédéric MY et al.

Human Mutation, 2009

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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."