Varaico: Literature-Extracted Genetic Variants

Gene:CHEK2
Variant:p.M1Fs
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CHEK2

NM_007194.4:p.M1Fs

Associated Papers

Genomic Landscape Features of Minimally Invasive Adenocarcinoma and Invasive Lung Adenocarcinoma.

Zhang W et al.

Global Medical Genetics, 2024

CHEK2 mutation causes manifestations similar to Lynch syndrome and Li-Fraumeni syndrome.

Jing WN et al.

Digestive and Liver Disease : Official Journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver, 2024

Comprehensive splicing analysis of the alternatively spliced CHEK2 exons 8 and 10 reveals three enhancer/silencer-rich regions and 38 spliceogenic variants.

Sanoguera-Miralles L et al.

The Journal of Pathology, 2024

Systematic Minigene-Based Splicing Analysis and Tentative Clinical Classification of 52 CHEK2 Splice-Site Variants.

Sanoguera-Miralles L et al.

Clinical Chemistry, 2024

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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."