Varaico: Literature-Extracted Genetic Variants

Gene:PTCD3
Variant:p.F583insFs
Back to variants list

PTCD3

NM_017952.6:p.F583insFs

Associated Papers

The phenotypic spectrum of PTCD3 deficiency.

Lace B et al.

Jimd Reports, 2024

Genomic characteristics and immune landscape of super multiple primary lung cancer.

Yang Z et al.

Ebiomedicine, 2024

38364701 (PubMed )
Supplement: mmc6.xlsx › Sheet1

Leigh syndrome is the main clinical characteristic of PTCD3 deficiency.

Muñoz-Pujol G et al.

Brain Pathology (zurich, Switzerland), 2023

Human Mitoribosome Biogenesis and Its Emerging Links to Disease.

Lopez Sanchez MIG et al.

International Journal of Molecular Sciences, 2021

The Diseased Mitoribosome.

Ferrari A et al.

Febs Letters, 2021

Mitochondrial ribosomal protein PTCD3 mutations cause oxidative phosphorylation defects with Leigh syndrome.

Borna NN et al.

Neurogenetics, 2019

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."