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Explainable Machine Learning to Uncover Distinct Phenotypic Signatures of Hypertrophic Cardiomyopathy and Fabry Disease

2024-01-22

Abstract excerpt

<title>Abstract</title> <p>Background: Fabry Disease (FD) is a rare metabolic condition, characterised by a wide range of symptoms and progressive deterioration of the heart, kidneys and nervous system. The condition often goes undiagnosed for between 3-10 years, with misdiagnoses during this period being common. A historically common misdiagnosis for FD is Hypertrophic Cardiomyopathy (HCM). This condition mimics...

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Literature Corpus work
683db63c-7637-5bb0-9155-1c40299b5858
DOI
10.21203/rs.3.rs-3864850/v1
Open publication

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Explainable Machine Learning to Uncover Distinct Phenotypic Signatures of Hypertrophic Cardiomyopathy and Fabry DiseaseDOI 10.21203/rs.3.rs-3864850/v1
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