Varaico: Literature-Extracted Genetic Variants

Gene:POU4F3
Variant:p.L201P
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POU4F3

NM_002700.3:p.L201P

Associated Papers

A Missense POU4F3 Variant Associated with Autosomal Dominant Midfrequency Hearing Loss Alters Subnuclear Localization and Transcriptional Capabilities.

Bai D et al.

Biomed Research International, 2021

Aldh inhibitor restores auditory function in a mouse model of human deafness.

Zhu GJ et al.

Plos Genetics, 2020

32970669 (PubMed )
Supplement: pgen.1009040.s011.docx

Identification of two novel mutations in POU4F3 gene associated with autosomal dominant hearing loss in Chinese families.

Bai X et al.

Journal of Cellular and Molecular Medicine, 2020

Comprehensive genetic testing of Chinese SNHL patients and variants interpretation using ACMG guidelines and ethnically matched normal controls.

Yuan Y et al.

European Journal of Human Genetics : Ejhg, 2020

Four Novel Variants in POU4F3 Cause Autosomal Dominant Nonsyndromic Hearing Loss.

Cui TY et al.

Neural Plasticity, 2020

A Missense Mutation in POU4F3 Causes Midfrequency Hearing Loss in a Chinese ADNSHL Family.

Gao X et al.

Biomed Research International, 2018

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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."