Varaico: Literature-Extracted Genetic Variants

Gene:SCO2
Variant:p.P233T
Back to variants list

SCO2

NM_005138.3:p.P233T

Associated Papers

Protein Transduction Domain-Mediated Delivery of Recombinant Proteins and In Vitro Transcribed mRNAs for Protein Replacement Therapy of Human Severe Genetic Mitochondrial Disorders: The Case of Sco2 Deficiency.

Miliotou AN et al.

Pharmaceutics, 2023

Exome sequencing reveals SCO2 mutations in a family presented with fatal infantile hyperthermia.

Sambuughin N et al.

Journal of Human Genetics, 2013

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."