Varaico: Literature-Extracted Genetic Variants

Gene:CIAO1
Variant:p.R65W
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CIAO1

NM_004804.3:p.R65W

Associated Papers

Functional studies of human variants in C. elegans link iron metabolism to DPD deficiency and 5-FU sensitivity.

Li X et al.

Genetics, 2026

The Cia1 and Cia2 subunits of the CTC mediate recognition of apo-FeS proteins with a C-terminal targeting complex recognition motif.

Buzuk A et al.

Biorxiv : the Preprint Server for Biology, 2025

CIAO1 loss of function causes a neuromuscular disorder with compromise of nucleocytoplasmic Fe-S enzymes.

Maio N et al.

The Journal of Clinical Investigation, 2024

CIAO1 and MMS19 deficiency: A lethal neurodegenerative phenotype caused by cytosolic Fe-S cluster protein assembly disorders.

van Karnebeek CDM et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2024

Loss of Function of the Cytoplasmic Fe-S Assembly Protein CIAO1 Causes a Neuromuscular Disorder with Compromise of Nucleocytoplasmic Fe-S Enzymes.

Maio N et al.

Medrxiv : the Preprint Server for Health Sciences, 2023

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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."