Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.W1058*
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ATM

NM_000051.4:p.W1058*

Associated Papers

BRCA2 Germline Mutations Identify Gastric Cancers Responsive to PARP Inhibitors.

Petrelli A et al.

Cancer Research, 2023

37129948 (PubMed )
Supplement: can-22-2620_supplementary_table_s2_suppst2.pdf

Ataxia-telangiectasia in China: a case report of a novel ATM variant and literature review.

Shao L et al.

Frontiers in Neurology, 2023

Genome-wide analyses of 200,453 individuals yield new insights into the causes and consequences of clonal hematopoiesis.

Kar SP et al.

Nature Genetics, 2022

35835912 (PubMed )
Supplement: 41588_2022_1121_MOESM3_ESM.xlsx › ST4

Compound heterozygous variants including a novel copy number variation in a child with atypical ataxia-telangiectasia: a case report.

Lee HY et al.

Bmc Medical Genomics, 2021

Twelve novel Atm mutations identified in Chinese ataxia telangiectasia patients.

Huang Y et al.

Neuromolecular Medicine, 2013

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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."