Unknown

Dataset Information

0

Disruption of tRNA modification underlies intellectual disability disorders caused by pathogenic variants in TRMT1

ABSTRACT: Video of TRMT1-ID patients. Video recordings are available for affected individuals from Family 1 (Supplementary Video 1 and 2).

ORGANISM(S): Homo sapiens (human)

SUBMITTER:  

PROVIDER: S-BSST1486 | biostudies-other |

REPOSITORIES: biostudies-other

Json Xml

Similar Datasets

Unknown Bi-allelic pathogenic variants in TRMT1 disrupt tRNA modification and induce a neurodevelopmental disorder.
| S-EPMC12120178 | biostudies-literature
Unknown Disruption of MeCP2-TCF20 complex underlies distinct neurodevelopmental disorders.
| S-EPMC8794850 | biostudies-literature
Unknown Novel Cases of Non-Syndromic Hearing Impairment Caused by Pathogenic Variants in Genes Encoding Mitochondrial Aminoacyl-tRNA Synthetases.
| S-EPMC11276111 | biostudies-literature
Unknown Disruption to tRNA Modification by Queuine Contributes to Inflammatory Bowel Disease.
| S-EPMC10140797 | biostudies-literature
Unknown Congenital disorders of glycosylation with multiorgan disruption and immune dysregulation caused by compound heterozygous variants in MAN2B2.
| S-EPMC11019143 | biostudies-literature
Unknown Gitelman-Like Syndrome Caused by Pathogenic Variants in mtDNA.
| S-EPMC8819995 | biostudies-literature
Unknown MCAD deficiency caused by compound heterozygous pathogenic variants in ACADM.
| S-EPMC8761748 | biostudies-literature
Unknown Osteoporosis and skeletal dysplasia caused by pathogenic variants in SGMS2.
| S-EPMC6483641 | biostudies-literature
Unknown An oligodendrocyte silencer element underlies the pathogenic impact of lamin B1 structural variants.
| S-EPMC11799162 | biostudies-literature
Unknown Metabolic impact of pathogenic variants in the mitochondrial glutamyl-tRNA synthetase EARS2.
| S-EPMC9219168 | biostudies-literature