Varaico: Literature-Extracted Genetic Variants

Gene:GTPBP3
Variant:p.R174P
Back to variants list

GTPBP3

NM_032620.4:p.R174P

Associated Papers

Critically unwell infants and children with mitochondrial disorders diagnosed by ultrarapid genomic sequencing.

Ball M et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2025

Integrated multi-omics for rapid rare disease diagnosis on a national scale.

Lunke S et al.

Nature Medicine, 2023

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."