Varaico: Literature-Extracted Genetic Variants

Gene:CIAO1
Variant:p.H251L
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CIAO1

NM_004804.3:p.H251L

Associated Papers

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

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."