Varaico: Literature-Extracted Genetic Variants

Gene:LMNA
Variant:p.E460_D461Splc
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LMNA

NM_170707.4:p.E460_D461Splc

Associated Papers

Next-generation sequencing for pediatric-onset neuromuscular disorders unresolved by conventional diagnostic methods.

Kulsirichawaroj P et al.

Pediatric Research, 2025

40494860 (PubMed )
Supplement: 41390_2025_4160_MOESM3_ESM.pdf

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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