Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.F30Y
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ATM

NM_000051.4:p.F30Y

Associated Papers

Pathogenic genetic variants from highly connected cancer susceptibility genes confer the loss of structural stability.

Reza MN et al.

Scientific Reports, 2021

34584144 (PubMed )
Supplement: 41598_2021_98547_MOESM1_ESM.zip › Supplementary_files-5-8-21 › Supplementary_file_5.xlsx › Sheet1

Genetic variants of prospectively demonstrated phenocopies in BRCA1/2 kindreds.

Dominguez-Valentin M et al.

Hereditary Cancer in Clinical Practice, 2018

Phosphorylation-regulated binding of Ctp1 to Nbs1 is critical for repair of DNA double-strand breaks.

Dodson GE et al.

Cell Cycle (georgetown, Tex.), 2010

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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."