Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.R2929Splc
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ATM

NM_000051.4:p.R2929Splc

Associated Papers

Pathogenic variation in human DNA damage repair genes was originated from the evolutionary process of modern humans.

Li J et al.

Genes & Diseases, 2026

41624906 (PubMed )
Supplement: mmc1.xlsx › Sheet1

Secondary findings in genes related to cancer phenotypes in Turkish exome sequencing data from 2020 individuals.

Demir O et al.

American Journal of Medical Genetics. Part A, 2024

Pathogenic variants in human DNA damage repair genes mostly arose in recent human history.

Zhao B et al.

Bmc Cancer, 2024

38575974 (PubMed )
Supplement: 12885_2024_12160_MOESM6_ESM.xlsx › Sheet1

A Collaborative Effort to Define Classification Criteria for ATM Variants in Hereditary Cancer Patients.

Feliubadaló L et al.

Clinical Chemistry, 2021

Computational Tools for Splicing Defect Prediction in Breast/Ovarian Cancer Genes: How Efficient Are They at Predicting RNA Alterations?

Moles-Fernández A et al.

Frontiers in Genetics, 2018

30233647 (PubMed )
Supplement: Table_1.XLSX › Supplem_Table_2

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

Uncommon variants detected via hereditary cancer panel and suggestions for genetic counseling.

Özdemir Z et al.

Mutation Research, 0

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