Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.R1973G
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ATM

NM_000051.4:p.R1973G

Associated Papers

[Next generation sequencing in pediatric bone marrow failure: a valuable tool for accurate diagnosis].

Pacheco-Orozco RA et al.

Andes Pediatrica : Revista Chilena De Pediatria, 2024

The Potential of Genetics in Identifying Women at Lower Risk of Breast Cancer.

Bolze A et al.

Jama Oncology, 2024

38153744 (PubMed )
Supplement: jamaoncol-e235468-s002.xlsx › eTable_4

Molecular Signature Expands the Landscape of Driver Negative Thyroid Cancers.

Bim LV et al.

Cancers, 2021

34680332 (PubMed )
Supplement: cancers-13-05184-s001.zip › cancers-1388243_supplementary-for_xml › Supplementary_Table_S2.xlsx › variants

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
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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."