Varaico: Literature-Extracted Genetic Variants

Gene:LMNA
Variant:p.R60P
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LMNA

NM_170707.4:p.R60P

Associated Papers

Genomic stop codon scanning reveals quantitative principles of nonsense-mediated mRNA decay.

Cortázar MA et al.

Biorxiv : the Preprint Server for Biology, 2025

41509423 (PubMed )
Supplement: media-2.xlsx › mRNA_expression

Looking at New Unexpected Disease Targets in LMNA-Linked Lipodystrophies in the Light of Complex Cardiovascular Phenotypes: Implications for Clinical Practice.

Mosbah H et al.

Cells, 2020

LMNA-associated partial lipodystrophy: anticipation of metabolic complications.

Jeru I et al.

Journal of Medical Genetics, 2017

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