Varaico: Literature-Extracted Genetic Variants

Gene:CIAO1
Variant:p.R208H
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CIAO1

NM_004804.3:p.R208H

Associated Papers

Low-level mosaic trisomy 2 at amniocentesis in a pregnancy associated with oligohydramnios, intrauterine growth restriction, maternal uniparental isodisomy 2 and a homozygous missense mutation in CIAO1 in the fetus.

Chen CP et al.

Taiwanese Journal of Obstetrics & Gynecology, 2025

A Novel Heterozygous Missense Variant in the CIAO1 Gene in a Family with Alzheimer's Disease: The Val67Ile Variant Promotes the Interaction of CIAO1 and Amyloid-β Protein Precursor.

Nan H et al.

Journal of Alzheimer's Disease : Jad, 2021

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