ArticleFrontiers in cardiovascular medicine2023
Novel pathogenic variant in LMNA gene identified in a six-generation family causing atrial cardiomyopathy and associated right atrial conduction arrhythmias.
Article in Frontiers in cardiovascular medicine, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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7 authors at 2 institutions in 1 country.
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Abstract
Objective: To characterize the cardiac phenotype associated with the novel pathogenic variant (c.1526del) of Methods and Results: A family tree was constructed. The clinical data of living and deceased family members were collected. DNA samples from 7 family members were analyzed for Conclusion: The pathogenic variant of c.1526del p.P509Lfs*39 was a frameshift deletion located at exon 9 of
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