Varaico: Literature-Extracted Genetic Variants

Gene:LMNA
Variant:p.R48L
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LMNA

NM_170707.4:p.R48L

Associated Papers

Cardiac fludeoxyglucose-18 positron emission tomography in genotype-positive arrhythmogenic cardiomyopathy.

Neves R et al.

International Journal of Cardiology, 2023

Most myopathic lamin variants aggregate: a functional genomics approach for assessing variants of uncertain significance.

Anderson CL et al.

Npj Genomic Medicine, 2021

34862408 (PubMed )
Supplement: 41525_2021_265_MOESM1_ESM.pdf

Congenital fiber type disproportion myopathy caused by LMNA mutations.

Kajino S et al.

Journal of the Neurological Sciences, 2014

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