Varaico: Literature-Extracted Genetic Variants

Gene:LMNA
Variant:p.E84D
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LMNA

NM_170707.4:p.E84D

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

Primate Model Carrying LMNA Mutation Develops Dilated Cardiomyopathy.

Luo X et al.

Jacc. Basic to Translational Science, 2024

38559624 (PubMed )
Supplement: mmc1.docx

Genetic characterization of dilated cardiomyopathy patients undergoing heart transplantation in the Chinese population by whole-exome sequencing.

Lian H et al.

Journal of Translational Medicine, 2023

37461109 (PubMed )
Supplement: 12967_2023_4282_MOESM3_ESM.xls › Table_S3

Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

Pejaver V et al.

American Journal of Human Genetics, 2022

36413997 (PubMed )
Supplement: mmc2.xlsx › mmc2
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