Varaico: Literature-Extracted Genetic Variants

Gene:LMNA
Variant:p.E385del1
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LMNA

NM_170707.4:p.E385del1

Associated Papers

Congenital muscular dystrophies and myopathies: the leading cause of genetic muscular disorders in eleven Chinese families.

Mao B et al.

Bmc Musculoskeletal Disorders, 2025

Utilisation of exome sequencing for muscular disorders in Thai paediatric patients: diagnostic yield and mutational spectrum.

Summa S et al.

Scientific Reports, 2023

36697461 (PubMed )
Supplement: 41598_2023_28405_MOESM1_ESM.pdf
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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."