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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TBC1D2

Variant:p.R697Q

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TBC1D2

NM_001267571.2:p.R697Q

hg38:chr9:98208728 C>T

Associated Papers

Loss of human ICOSL results in combined immunodeficiency.

Roussel L et al.

The Journal of Experimental Medicine, 2018

30498080 (PubMed )

Supplement: JEM_20180668_TableS1.xlsx › SR5064319_min_10_reads_annotate

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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."