Associated Papers
Predicting valuable missense variants with AlphaMissense in a multiple pulmonary infection patient.
Wang T et al.
Clinical Case Reports, 2024
38292225 (PubMed )
Supplement: CCR3-12-e8453-s001.xlsx › SNP
A novel missense mutation in obscurin gene in a Chinese consanguineous family with left ventricular noncompaction.
Dong XQ et al.
Journal of Geriatric Cardiology : Jgc, 2022
Unraveling obscurins in heart disease.
Grogan A et al.
Pflugers Archiv : European Journal of Physiology, 2019
Thick Filament Protein Network, Functions, and Disease Association.
Wang L et al.
Comprehensive Physiology, 2018
Obscurin variants and inherited cardiomyopathies.
Marston S
Biophysical Reviews, 2017
Investigation of Pathogenic Genes in Chinese sporadic Hypertrophic Cardiomyopathy Patients by Whole Exome Sequencing.
Xu J et al.
Scientific Reports, 2015
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