Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.I2179M
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ATM

NM_000051.4:p.I2179M

Associated Papers

Prevalence and Reclassification of Genetic Variants in South African Populations with Breast Cancer.

Osler TS et al.

Genes, Chromosomes & Cancer, 2024

Germline genetic variants in pheochromocytoma/paraganglioma: single-center experience.

Lima JV et al.

Endocrine Oncology (bristol, England), 2023

37529773 (PubMed )
Supplement: supplementary_table_1.pdf

Frequency of germline genetic variants in women with a personal or family history of breast cancer from Brazil.

Pereira JZ et al.

Molecular Biology Reports, 2022

Detection of germline variants in Brazilian breast cancer patients using multigene panel testing.

Guindalini RSC et al.

Scientific Reports, 2022

35264596 (PubMed )
Supplement: 41598_2022_7383_MOESM3_ESM.xlsx › Planilha1

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_2.xlsx › Sheet1

Prospective Statewide Study of Universal Screening for Hereditary Colorectal Cancer: The Ohio Colorectal Cancer Prevention Initiative.

Pearlman R et al.

Jco Precision Oncology, 2021

Spectrum of mutations in leiomyosarcomas identified by clinical targeted next-generation sequencing.

Lee PJ et al.

Experimental and Molecular Pathology, 2017

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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."