Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.H17R
Back to variants list

ATM

NM_000051.4:p.H17R

Associated Papers

Genetic Testing in Egyptian Patients with Inborn Errors of Immunity: a Single-Center Experience.

El Hawary RE et al.

Journal of Clinical Immunology, 2022

Breast cancer risks associated with missense variants in breast cancer susceptibility genes.

Dorling L et al.

Genome Medicine, 2022

35585550 (PubMed )
Supplement: 13073_2022_1052_MOESM2_ESM.xlsx › Table_S14

Decreased ATM Function Causes Delayed DNA Repair and Apoptosis in Common Variable Immunodeficiency Disorders.

Hargreaves CE et al.

Journal of Clinical Immunology, 2021

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."