Varaico: Literature-Extracted Genetic Variants

Gene:LMNA
Variant:p.E55G
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LMNA

NM_170707.4:p.E55G

Associated Papers

Genomic instability and DNA replication defects in progeroid syndromes.

Burla R et al.

Nucleus (austin, Tex.), 2018

Nuclear envelopathies: a complex LINC between nuclear envelope and pathology.

Janin A et al.

Orphanet Journal of Rare Diseases, 2017

Targeted Next-Generation Sequencing of 51 Genes Involved in Primary Electrical Disease.

Proost D et al.

The Journal of Molecular Diagnostics : Jmd, 2017

Novel LMNA mutations cause an aggressive atypical neonatal progeria without progerin accumulation.

Soria-Valles C et al.

Journal of Medical Genetics, 2016

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