Associated Papers
Image-based, pooled phenotyping reveals multidimensional, disease-specific variant effects.
Pendyala S et al.
Biorxiv : the Preprint Server for Biology, 2025
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
A novel overlapping phenotype characterized by lipodystrophy, mandibular dysplasia, and dilated cardiomyopathy associated with a new mutation in the LMNA gene.
Ambrosi P et al.
International Journal of Cardiology, 2016
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