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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SLC26A4

Variant:p.N519delFs

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SLC26A4

NM_000441.2:p.N519delFs

hg38:chr7:107698051 GAA>G

Associated Papers

A novel missense mutation in the SLC26A4 gene causes nonsyndromic hearing loss and enlarged vestibular aqueduct.

He X et al.

International Journal of Pediatric Otorhinolaryngology, 2017

28576516 (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."