Varaico: Literature-Extracted Genetic Variants

Gene:FOXI1
Variant:p.R123W
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FOXI1

NM_012188.5:p.R123W

Associated Papers

Genes linked to hearing and vestibular phenotypes in humans and mice: an interspecies systematic review.

Ayoub C et al.

Human Genomics, 2025

41430327 (PubMed )
Supplement: 40246_2025_891_MOESM1_ESM.xlsx › Supplementary_Table_S2.

Homozygous Missense Variants in FOXI1 and TMPRSS3 Genes Associated with Non-syndromic Deafness in Moroccan Families.

AitRaise I et al.

Biochemical Genetics, 2024

Functional studies of deafness-associated pendrin and prestin variants.

Takahashi S et al.

Biorxiv : the Preprint Server for Biology, 2024

Lack of significant association between mutations of KCNJ10 or FOXI1 and SLC26A4 mutations in Pendred syndrome/enlarged vestibular aqueducts.

Landa P et al.

Bmc Medical Genetics, 2013

Distribution and frequencies of PDS (SLC26A4) mutations in Pendred syndrome and nonsyndromic hearing loss associated with enlarged vestibular aqueduct: a unique spectrum of mutations in Japanese.

Tsukamoto K et al.

European Journal of Human Genetics : Ejhg, 2003

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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."