Varaico: Literature-Extracted Genetic Variants

Gene:SIX1
Variant:p.Y129H
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SIX1

NM_005982.4:p.Y129H

Associated Papers

Phenotypic and molecular basis of SIX1 variants linked to non-syndromic deafness and atypical branchio-otic syndrome in South Korea.

Lee S et al.

Scientific Reports, 2023

A Novel p.Tyr129His Variant in SIX1 Leads to Dominant, Delayed-onset Hearing Loss with Possible Association with Congenital Anosmia.

Pang XH et al.

Biomedical and Environmental Sciences : Bes, 2021

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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."