Varaico: Literature-Extracted Genetic Variants

Gene:CHEK1
Variant:p.R420K
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CHEK1

NM_001114122.3:p.R420K

Associated Papers

Case report: A germline CHEK1 c.613 + 2T>C leads to a splicing error in a family with multiple cancer patients.

Qian J et al.

Frontiers in Oncology, 2024

When more is less: heritable gain-of-function chk1 mutations impair human fertility.

Gillespie DA

The Febs Journal, 2023

Dominant mutations in CHK1 cause pronuclear fusion failure and zygote arrest that can be rescued by CHK1 inhibitor.

Zhang H et al.

Cell Research, 2021

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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."