Varaico: Literature-Extracted Genetic Variants

Gene:MICOS13
Variant:p.R10Splc
Back to variants list

MICOS13

NM_205767.3:p.R10Splc

Associated Papers

Nifuroxazide rescues the deleterious effects due to CHCHD10-associated MICOS defects in disease models.

Ropert B et al.

Brain : a Journal of Neurology, 2025

Primary mitochondrial disorders and mimics: Insights from a large French cohort.

Rouzier C et al.

Annals of Clinical and Translational Neurology, 2024

38703036 (PubMed )
Supplement: ACN3-11-1478-s004.xlsx › children_patients

Molecular Insights into Mitochondrial Protein Translocation and Human Disease.

Ruiz-Pesini E et al.

Genes, 2021

Diagnostic contribution of metabolic workup for neonatal inherited metabolic disorders in the absence of expanded newborn screening.

Bower A et al.

Scientific Reports, 2019

QIL1 mutation causes MICOS disassembly and early onset fatal mitochondrial encephalopathy with liver disease.

Guarani V et al.

Elife, 2016

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."