Varaico: Literature-Extracted Genetic Variants

Gene:FOXI3
Variant:p.R240C
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FOXI3

NM_001135649.3:p.R240C

Associated Papers

Identification and functional characterization of pathogenic FOXI3 variants in craniofacial microsomia.

Chen X et al.

Journal of Genetics and Genomics = Yi Chuan Xue Bao, 2025

FOXI3 pathogenic variants cause one form of craniofacial microsomia.

Mao K et al.

Nature Communications, 2023

Damaging variants in FOXI3 cause microtia and craniofacial microsomia.

Quiat D et al.

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