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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SLC26A4

Variant:p.V559_D560insA

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SLC26A4

NM_000441.2:p.V559_D560insA

hg38:chr7:107700143 G>GNNN

Associated Papers

Curating Clinically Relevant Transcripts for the Interpretation of Sequence Variants.

DiStefano MT et al.

The Journal of Molecular Diagnostics : Jmd, 2018

30096381 (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."