Associated Papers
Whole-exome sequencing in children with dyslexia implicates rare variants in CLDN3 and ion channel genes.
Marianski K et al.
Human Genetics, 2025
41442065 (PubMed )
Supplement: 439_2025_2796_MOESM4_ESM.xlsx › ST2
The homozygous R504C mutation in MTO1 gene is responsible for ONCE syndrome.
Martín MÁ et al.
Clinical Genetics, 2017
Invited review: MnmE, a GTPase that drives a complex tRNA modification reaction.
Fislage M et al.
Biopolymers, 2016
MTO1 mutations are associated with hypertrophic cardiomyopathy and lactic acidosis and cause respiratory chain deficiency in humans and yeast.
Baruffini E et al.
Human Mutation, 2013
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