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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:BTK

Variant:p.K199fs

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BTK

NM_000061.3:p.K199fs

hg38:chrX:101360749 TTT>N

Associated Papers

Systematic errors in annotations of truncations, loss-of-function and synonymous variants.

Vihinen M

Frontiers in Genetics, 2023

36713076 (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."