Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.Q446*
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ATM

NM_000051.4:p.Q446*

Associated Papers

Insights for precision oncology from the integration of genomic and clinical data of 13,880 tumors from the 100,000 Genomes Cancer Programme.

Sosinsky A et al.

Nature Medicine, 2024

38200255 (PubMed )
Supplement: 41591_2023_2682_MOESM3_ESM.xlsx › Table_S1

Pathogenic ATM Variant-Harbouring Well-Differentiated Aggressive Type 1 Gastric Neuroendocrine Tumour with High-grade Features (G3 NET): a New Addition to the Clinical and Pathological Spectrum of Gastric Neuroendocrine Neoplasms.

Nassereddine H et al.

Endocrine Pathology, 2021

Molecular profiling of basal cell carcinomas in young patients.

Abi Karam M et al.

Bmc Medical Genomics, 2021

34284772 (PubMed )
Supplement: 12920_2021_1030_MOESM2_ESM.xlsx › Annex_2

A computational and structural analysis of germline and somatic variants affecting the DDR mechanism, and their impact on human diseases.

Magraner-Pardo L et al.

Scientific Reports, 2021

DNA microarray analysis for the detection of mutations in hemophilia A.

Berber E et al.

Journal of Thrombosis and Haemostasis : Jth, 2006

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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."