Varaico: Literature-Extracted Genetic Variants

Gene:SIX1
Variant:p.K173N
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SIX1

NM_005982.4:p.K173N

Associated Papers

Unexpected role of SIX1 variants in craniosynostosis: expanding the phenotype of SIX1-related disorders.

Calpena E et al.

Journal of Medical Genetics, 2022

Otological manifestations in branchiootorenal spectrum disorder: A systematic review and meta-analysis.

Chen A et al.

Clinical Genetics, 2021

A de novo SIX1 variant in a patient with a rare nonsyndromic cochleovestibular nerve abnormality, cochlear hypoplasia, and bilateral sensorineural hearing loss.

Kari E et al.

Molecular Genetics & Genomic Medicine, 2019

Comprehensive analysis of syndromic hearing loss patients in Japan.

Ideura M et al.

Scientific Reports, 2019

Clinically diverse phenotypes and genotypes of patients with branchio-oto-renal syndrome.

Unzaki A et al.

Journal of Human Genetics, 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."