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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TPK1

Variant:p.G223R

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TPK1

NM_022445.4:p.G223R

hg38:chr7:144453610 C>G

Associated Papers

An extended set of yeast-based functional assays accurately identifies human disease mutations.

Sun S et al.

Genome Research, 2016

26975778 (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."