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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:EXT1

Variant:p.Q2K

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EXT1

NM_000127.3:p.Q2K

hg38:chr8:118111043 G>T

Associated Papers

Substrate spectrum of PPM1D in the cellular response to DNA double-strand breaks.

Gräf JF et al.

Iscience, 2022

36060052 (PubMed )

Supplement: mmc2.xlsx › Table_S1

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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."