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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TMC1

Variant:p.R71fs

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TMC1

NM_138691.3:p.R71fs

hg38:chr9:72694689 AGG>N

Associated Papers

Whole exome sequencing diagnosing syndromic and non-syndromic hearing loss with expansion of the phenotypic spectrum related to TMC1 variants.

Elbagoury NM et al.

European Journal of Pediatrics, 2025

40100472 (PubMed )

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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."