Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.L2077fs
Back to variants list

ATM

NM_000051.4:p.L2077fs

Associated Papers

Cancer Susceptibility Gene Testing in Patients With Pancreatic Ductal Adenocarcinoma: Implementation in a Cancer Center Oncology Clinic.

Sinan H et al.

Jco Precision Oncology, 2025

Genetic Risk Factors for Early-Onset Merkel Cell Carcinoma.

Mohsin N et al.

Jama Dermatology, 2024

Understanding the Genetic Landscape of Pancreatic Ductal Adenocarcinoma to Support Personalized Medicine: A Systematic Review.

Pantaleo A et al.

Cancers, 2023

38201484 (PubMed )
Supplement: cancers-16-00056-s001.zip › Table_S3_Proof_final_version.xlsx › ATM_

Atypical ATMs: Broadening the phenotypic spectrum of ATM-associated hereditary cancer.

Borja NA et al.

Frontiers in Oncology, 2023

Feasibility and limitations of cultured skin fibroblasts for germline genetic testing in hematologic disorders.

DeRoin L et al.

Human Mutation, 2022

35419889 (PubMed )
Supplement: HUMU-43-950-s001.xlsx › S3

Germline ATM variants predispose to melanoma: a joint analysis across the GenoMEL and MelaNostrum consortia.

Dalmasso B et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021

Physician-directed genetic screening to evaluate personal risk for medically actionable disorders: a large multi-center cohort study.

Haverfield EV et al.

Bmc Medicine, 2021

34404389 (PubMed )
Supplement: 12916_2021_1999_MOESM2_ESM.pdf

ATM mutation in a patient with thymoma-associated myasthenia gravis.

Yuen C et al.

Muscle & Nerve, 2020

Somatic Mutations in Renal Cyst Epithelium in Autosomal Dominant Polycystic Kidney Disease.

Tan AY et al.

Journal of the American Society of Nephrology : Jasn, 2018

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."