Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.Q1311*
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ATM

NM_000051.4:p.Q1311*

Associated Papers

Pathogenic variants in human DNA damage repair genes mostly arose after the latest human out-of-Africa migration.

He J et al.

Frontiers in Genetics, 2024

38948361 (PubMed )
Supplement: Table1.XLSX › Sheet1

Multiple Germline Events Contribute to Cancer Development in Patients with Li-Fraumeni Syndrome.

Subasri V et al.

Cancer Research Communications, 2023

37377903 (PubMed )
Supplement: crc-22-0402-s04.xlsx › A._Class3_SNVs_indels

Deleterious variants in genes regulating mammalian reproduction in Neanderthals, Denisovans and extant humans.

Greer C et al.

Human Reproduction (oxford, England), 2021

Prevalence of deleterious ATM germline mutations in gastric cancer patients.

Huang DS et al.

Oncotarget, 2015

26506520 (PubMed )
Supplement: oncotarget-06-40953-s001.pdf

Mutation profiling in cholangiocarcinoma: prognostic and therapeutic implications.

Churi CR et al.

Plos One, 2014

25536104 (PubMed )
Supplement: pone.0115383.s001.xlsx › Sheet_1

Ataxia-telangiectasia presenting with a novel immunodeficiency.

Perreault S et al.

Pediatric Neurology, 2012

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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."