Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A4
Variant:p.A109delFs
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SLC26A4

NM_000441.2:p.A109delFs

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_S6

Hereditary deafness carrier screening in 9,993 Chinese individuals.

Liu Y et al.

Frontiers in Genetics, 2023

38274112 (PubMed )
Supplement: Table1.XLSX › Table_S3_Variant_spectrum_of_SL

Pilot study of expanded carrier screening for 11 recessive diseases in China: results from 10,476 ethnically diverse couples.

Zhao S et al.

European Journal of Human Genetics : Ejhg, 2019

30275481 (PubMed )
Supplement: 41431_2018_253_MOESM7_ESM.xlsx › Sheet1
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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."