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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SLC26A2

Variant:p.C653*

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SLC26A2

NM_000112.4:p.C653*

hg38:chr5:149981552 C>A

Associated Papers

SLC26A2-Associated Diastrophic Dysplasia and rMED-Clinical Features in Affected Finnish Children and Review of the Literature.

Härkönen H et al.

Genes, 2021

34064542 (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."