Varaico: Literature-Extracted Genetic Variants

Gene:LMNA
Variant:p.R156S
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LMNA

NM_170707.4:p.R156S

Associated Papers

Genotype-Phenotype Correlations in Human Diseases Caused by Mutations of LINC Complex-Associated Genes: A Systematic Review and Meta-Summary.

Storey EC et al.

Cells, 2022

36552829 (PubMed )
Supplement: cells-11-04065-s001.zip › Storey___Fuller_Supplementary_Materials_S2_Data_extraction.xlsx › Lamins

Lamin A/C-Related Cardiac Disease: Late Onset With a Variable and Mild Phenotype in a Large Cohort of Patients With the Lamin A/C p.(Arg331Gln) Founder Mutation.

Hoorntje ET et al.

Circulation. Cardiovascular Genetics, 2017

28790152 (PubMed )
Supplement: circgenetics_circcvg-2016-001631_supp1.pdf
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