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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SLC17A8

Variant:p.A275D

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SLC17A8

NM_139319.3:p.A275D

hg38:chr12:100402400 C>A

Associated Papers

The c.824C>A and c.616dupA mutations in the SLC17a8 gene are associated with auditory neuropathy and lead to defective expression of VGluT3.

Qi Y et al.

Neuroreport, 2021

34145196 (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."