Varaico: Literature-Extracted Genetic Variants

Gene:LMNA
Variant:p.L204R
Back to variants list

LMNA

NM_170707.4:p.L204R

Associated Papers

Image-based, pooled phenotyping reveals multidimensional, disease-specific variant effects.

Pendyala S et al.

Biorxiv : the Preprint Server for Biology, 2025

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
Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."