Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.Q2972_E2975delFs
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ATM

NM_000051.4:p.Q2972_E2975delFs

Associated Papers

Prevalence of monogenic disease in paediatric patients with a predominant respiratory phenotype.

Dai D et al.

Archives of Disease in Childhood, 2022

34134972 (PubMed )
Supplement: archdischild-2021-322058supp001.pdf

Screening for primary immunodeficiency diseases by next-generation sequencing in early life.

Sun J et al.

Clinical & Translational Immunology, 2020

32431812 (PubMed )
Supplement: CTI2-9-e1138-s001.xlsx › Sheet1

Prevalence and characterization of ATM germline mutations in Chinese BRCA1/2-negative breast cancer patients.

Yang Z et al.

Breast Cancer Research and Treatment, 2019

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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."