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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SLC52A3

Variant:p.R268W

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SLC52A3

NM_033409.4:p.R268W

hg38:chr20:763769 G>A

Associated Papers

Clinical and genetic architecture of a large cohort with auditory neuropathy.

Wang H et al.

Human Genetics, 2024

38456936 (PubMed )

Supplement: 439_2024_2652_MOESM1_ESM.xlsx › Supplementary_Data_4

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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."