Varaico: Literature-Extracted Genetic Variants

Gene:SIX1
Variant:p.N174Y
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SIX1

NM_005982.4:p.N174Y

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

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

Genes Implicated in Rare Congenital Inner Ear and Cochleovestibular Nerve Malformations.

Kari E et al.

Ear and Hearing, 0

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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."