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