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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SMPX

Variant:p.R12_A13insFs

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SMPX

NM_014332.3:p.R12_A13insFs

hg38:chrX:21754255 T>TC

Associated Papers

Molecular epidemiology of Chinese Han deaf patients with bi-allelic and mono-allelic GJB2 mutations.

Yu X et al.

Orphanet Journal of Rare Diseases, 2020

31992338 (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."