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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TG

Variant:p.I1234V

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TG

NM_003235.5:p.I1234V

hg38:chr8:132906753 A>G

Associated Papers

Elucidating clinical phenotypic variability associated with the polyT tract and TG repeats in CFTR.

Nykamp K et al.

Human Mutation, 2021

34196078 (PubMed )

Supplement: HUMU-42-1165-s002.xlsx › Sheet1

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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."