Varaico: Literature-Extracted Genetic Variants

Gene:LMNA
Variant:p.L530F
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LMNA

NM_170707.4:p.L530F

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

Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness.

Töpf A et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020

32528171 (PubMed )
Supplement: 41436_2020_840_MOESM10_ESM.xlsx › .

Haberland syndrome: Clinical and neuroimaging findings leading to diagnosis.

González Ortega FJ et al.

Neurologia, 2018

Emery-Dreifuss muscular dystrophy type 2: New de novo mutation in the lamin A/C gene.

Ortiz Madinaveitia S et al.

Neurologia, 2018

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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."