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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:OTOF

Variant:p.N1938Splc

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OTOF

NM_194248.3:p.N1938Splc

hg38:chr2:26460215 G>A

Associated Papers

Quantitative thresholds for variant enrichment in 13,845 cases: improving pathogenicity classification in genetic hearing loss.

Liu S et al.

Genome Medicine, 2023

38111038 (PubMed )

Supplement: 13073_2023_1271_MOESM1_ESM.xlsx › Table_S3

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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."