Varaico: Literature-Extracted Genetic Variants

Gene:LMNA
Variant:p.D596_A600del0
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LMNA

NM_170707.4:p.D596_A600del0

Associated Papers

Large next-generation sequencing gene panels in genetic heart disease: yield of pathogenic variants and variants of unknown significance.

van Lint FHM et al.

Netherlands Heart Journal : Monthly Journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation, 2019

30847666 (PubMed )
Supplement: 12471_2019_1250_MOESM2_ESM.xlsx › Blad1

Assessment of fibroblast nuclear morphology aids interpretation of LMNA variants.

van Tienen FHJ et al.

European Journal of Human Genetics : Ejhg, 2019

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