Varaico: Literature-Extracted Genetic Variants

Gene:CHEK2
Variant:p.R148_E149Splc
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CHEK2

NM_007194.4:p.R148_E149Splc

Associated Papers

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

Sanoguera-Miralles L et al.

Clinical Chemistry, 2024

Comments on "The CHK2 kinase is recurrently mutated and functionally impaired in the germline of pediatric cancer patients".

Kratz CP et al.

International Journal of Cancer, 2023

The CHK2 kinase is recurrently mutated and functionally impaired in the germline of pediatric cancer patients.

Wagener R et al.

International Journal of Cancer, 2023

Comprehensive germline-genomic and clinical profiling in 160 unselected children and adolescents with cancer.

Wagener R et al.

European Journal of Human Genetics : Ejhg, 2021

Beyond BRCA1 and BRCA2: Deleterious Variants in DNA Repair Pathway Genes in Italian Families with Breast/Ovarian and Pancreatic Cancers.

Germani A et al.

Journal of Clinical Medicine, 2020

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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."