Varaico: Literature-Extracted Genetic Variants

Gene:LMNA
Variant:p.E213_E214Splc
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LMNA

NM_170707.4:p.E213_E214Splc

Associated Papers

The Influence of a Genetic Variant in CCDC78 on LMNA-Associated Skeletal Muscle Disease.

Mohar NP et al.

International Journal of Molecular Sciences, 2024

Thematic review series: Adipocyte Biology. Lipodystrophies: windows on adipose biology and metabolism.

Hegele RA et al.

Journal of Lipid Research, 2007

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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