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Unlocking Predictive Power: A Machine Learning Tool Derived from In-Depth Analysis to Forecast the Impact of Missense Variants in Human Filamin C

2023-08-06

Abstract excerpt

Cardiomyopathies, diseases of the heart muscle, are a leading cause of heart failure. An increasing proportion of cardiomyopathies have been associated with specific genetic changes, such as mutations in FLNC , the gene that codes for filamin C. Altogether, more than 300 variants of FLNC have been identified in patients, including a number of single point mutations. However, the role of a significant number of t...

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Literature Corpus work
8675a671-b782-5999-acce-900377620aab
DOI
10.1101/2023.08.05.552086
Open publication

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