Varaico: Literature-Extracted Genetic Variants

Gene:SIX1
Variant:p.Y129_F131del0
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SIX1

NM_005982.4:p.Y129_F131del0

Associated Papers

PAM-flexible adenine base editing rescues hearing loss in a humanized MPZL2 mouse model harboring an East Asian founder mutation.

Hu SW et al.

Nature Communications, 2025

40764318 (PubMed )
Supplement: 41467_2025_62562_MOESM3_ESM.xlsx › Sheet1

Comprehensive genetic profiling of sensorineural hearing loss using an integrative diagnostic approach.

Lee SY et al.

Cell Reports. Medicine, 2025

40592345 (PubMed )
Supplement: mmc2.xlsx › Table_S2

Genomic Landscape of Branchio-Oto-Renal Syndrome through Whole-Genome Sequencing: A Single Rare Disease Center Experience in South Korea.

Cho SH et al.

International Journal of Molecular Sciences, 2024

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

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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."