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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SLC26A4

Variant:p.N475delFs

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SLC26A4

NM_000441.2:p.N475delFs

hg38:chr7:107694701 GA>G

Associated Papers

Port-wine stains associated with large vestibular aqueduct syndrome caused by mutations in GNAQ and SLC26A4 genes: A case report.

Cong T et al.

The Journal of Dermatology, 2020

31692010 (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."