Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.L1814fs
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ATM

NM_000051.4:p.L1814fs

Associated Papers

Beyond the marrow: insights from comprehensive next-generation sequencing of extramedullary multiple myeloma tumors.

Jelinek T et al.

Leukemia, 2024

38493239 (PubMed )
Supplement: 41375_2024_2206_MOESM2_ESM.pdf

Targeted Sequencing of Germline Breast Cancer Susceptibility Genes for Discovering Pathogenic/Likely Pathogenic Variants in the Jakarta Population.

Panigoro SS et al.

Diagnostics (basel, Switzerland), 2022

The incidence and type of cancer in patients with ataxia-telangiectasia via a retrospective single-centre study.

Bakhtiar S et al.

British Journal of Haematology, 2021

Transitioning the Molecular Tumor Board from Proof of Concept to Clinical Routine: A German Single-Center Analysis.

Hoefflin R et al.

Cancers, 2021

33800365 (PubMed )
Supplement: cancers-13-01151-s001.zip › Supplementary_Data_1.xlsx › S_Data_1

Follicular Thyroid Neoplasms: Comparison of Clinicopathologic and Molecular Features of Atypical Adenomas and Follicular Thyroid Carcinomas.

Cracolici V et al.

The American Journal of Surgical Pathology, 2020

Applications of Next Generation Sequencing to the Analysis of Familial Breast/Ovarian Cancer.

Zelli V et al.

High-throughput, 2020

Almost 2% of Spanish breast cancer families are associated to germline pathogenic mutations in the ATM gene.

Tavera-Tapia A et al.

Breast Cancer Research and Treatment, 2017

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