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Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
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Left ventricular noncompaction cardiomyopathy and short QT syndrome due to primary carnitine deficiency

Oliver P Hanington1, Catherine Armstrong2, Germaine Pierre3

  • 1Cardiovascular Research Laboratories, School of Physiology, Pharmacology and Neuroscience, University of Bristol, Bristol, UK.

Annals of Noninvasive Electrocardiology : the Official Journal of the International Society for Holter and Noninvasive Electrocardiology, Inc
|September 2, 2023
PubMed

Keywords:
cardiomyopathycarnitine deficiencyshort QT syndrome

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