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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SLC26A8

Variant:p.S230N

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SLC26A8

NM_052961.4:p.S230N

hg38:chr6:35992613 C>T

Associated Papers

Next-generation sequencing identifies transportin 3 as the causative gene for LGMD1F.

Torella A et al.

Plos One, 2013

23667635 (PubMed )

Supplement: pone.0063536.s006.xlsx › LGMD1F_HET_in_all

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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."