Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.L1327*
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ATM

NM_000051.4:p.L1327*

Associated Papers

Germline genetic variation impacts clonal hematopoiesis landscape and progression to malignancy.

Liu J et al.

Nature Genetics, 2025

40664769 (PubMed )
Supplement: 41588_2025_2250_MOESM4_ESM.xlsx › ST6

Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.

Wei J et al.

Plos Biology, 2024

38865309 (PubMed )
Supplement: pbio.3002680.s016.xlsx › ClinVar

Comprehensive genomic profiling of colorectal cancer patients reveals differences in mutational landscapes among clinical and pathological subgroups.

Li P et al.

Frontiers in Oncology, 2022

36439454 (PubMed )
Supplement: DataSheet_2.pdf

Comprehensive Genomic Characterization of Parathyroid Cancer Identifies Novel Candidate Driver Mutations and Core Pathways.

Clarke CN et al.

Journal of the Endocrine Society, 2019

Evaluation of Commercial Circulating Tumor DNA Test in Metastatic Prostate Cancer.

Taavitsainen S et al.

Jco Precision Oncology, 2019

SETD2 mutations in primary central nervous system tumors.

Viaene AN et al.

Acta Neuropathologica Communications, 2018

Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels.

LaDuca H et al.

Plos One, 2017

28152038 (PubMed )
Supplement: pone.0170843.s003.xlsx › S3_Table
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