Varaico: Literature-Extracted Genetic Variants

Gene:FOXI1
Variant:p.S147G
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FOXI1

NM_012188.5:p.S147G

Associated Papers

Functional studies of deafness-associated pendrin and prestin variants.

Takahashi S et al.

Biorxiv : the Preprint Server for Biology, 2024

Analysis of SLC26A4, FOXI1, and KCNJ10 Gene Variants in Patients with Incomplete Partition of the Cochlea and Enlarged Vestibular Aqueduct (EVA) Anomalies

Klarov LA et al.

International Journal of Molecular Sciences, 2022

36499699 (PubMed )
Supplement: ijms-23-15372-s001.zip › ijms-1952850-supplementary.pdf

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."