Associated Papers
Whole exome and genome sequencing in mendelian disorders: a diagnostic and health economic analysis.
Ewans LJ et al.
European Journal of Human Genetics : Ejhg, 2022
Case report: Rare novel MIPEP compound heterozygous variants presenting with hypertrophic cardiomyopathy, severe lactic acidosis and hypotonia in a Chinese infant.
Wang L et al.
Frontiers in Cardiovascular Medicine, 2022
Molecular Insights into Mitochondrial Protein Translocation and Human Disease.
Ruiz-Pesini E et al.
Genes, 2021
Systematic Review of Genotype-Phenotype Correlations in Noncompaction Cardiomyopathy.
van Waning JI et al.
Journal of the American Heart Association, 2019
MIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia, and infantile death.
Eldomery MK et al.
Genome Medicine, 2016
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