Varaico: Literature-Extracted Genetic Variants

Gene:LMNA
Variant:p.L320fs
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LMNA

NM_170707.4:p.L320fs

Associated Papers

Perinuclear damage from nuclear envelope deterioration elicits stress responses that contribute to LMNA cardiomyopathy.

Sikder K et al.

Science Advances, 2024

38718107 (PubMed )
Supplement: sciadv.adh0798_sm.pdf

The penetrance of rare variants in cardiomyopathy-associated genes: A cross-sectional approach to estimating penetrance for secondary findings.

McGurk KA et al.

American Journal of Human Genetics, 2023

37652022 (PubMed )
Supplement: mmc3.xlsx › Table_S9
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