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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CHEK2

Variant:p.Q336_Y337Splc

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CHEK2

NM_007194.4:p.Q336_Y337Splc

hg38:chr22:28699835 T>A

Associated Papers

Recurrent Germline Mutations of CHEK2 as a New Susceptibility Gene in Patients with Pheochromocytomas and Paragangliomas.

Gao Y et al.

International Journal of Endocrinology, 2021

34630562 (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."