Associated Papers
Compound Heterozygous MRPS14 Variants Associated With Leigh Syndrome.
Otero MG et al.
Annals of Clinical and Translational Neurology, 2025
Human Mitoribosome Biogenesis and Its Emerging Links to Disease.
Lopez Sanchez MIG et al.
International Journal of Molecular Sciences, 2021
A variant in MRPS14 (uS14m) causes perinatal hypertrophic cardiomyopathy with neonatal lactic acidosis, growth retardation, dysmorphic features and neurological involvement.
Jackson CB et al.
Human Molecular Genetics, 2019
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