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

Multilocus inherited neoplasia allele syndrome: report of uncommon combinations between CHEK2/ATM and BRCA1/CDKN2A genes.

Ubilla R et al.

Ecancermedicalscience, 2024

Targeted next-generation sequencing in papillary thyroid carcinoma patients looking for germline variants predisposing to the disease.

Shen CT et al.

Endocrine, 2019

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