Varaico: Literature-Extracted Genetic Variants

Gene:SIX5
Variant:p.G365R
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SIX5

NM_175875.5:p.G365R

Associated Papers

Screening for Hearing Impairment in Newborns Using Targeted Genomic Sequencing: A Large Pilot Cohort Study.

Lin PH et al.

Clinical and Experimental Otorhinolaryngology, 2025

Using Xenopus to discover new candidate genes involved in BOR and other congenital hearing loss syndromes.

Neal SJ et al.

Journal of Experimental Zoology. Part B, Molecular and Developmental Evolution, 2024

Burden of Mendelian disorders in a large Middle Eastern biobank.

Aamer W et al.

Genome Medicine, 2024

38584274 (PubMed )
Supplement: 13073_2024_1307_MOESM1_ESM.xlsx › Table_S9

Transcription factor SIX5 is mutated in patients with branchio-oto-renal syndrome.

Hoskins BE et al.

American Journal of Human Genetics, 2007

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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."