Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.Q1537_V1538Splc
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ATM

NM_000051.4:p.Q1537_V1538Splc

Associated Papers

Use of Radiation Therapy for Ataxia-Telangiectasia Mutated (ATM)-Mutation Metastatic Renal Cell Carcinoma: A Case Report.

Seyedin SN et al.

Cureus, 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

Ataxia-telangiectasia in pediatric neurology clinics: A retrospective multicenter study.

Şenol HB et al.

Pediatrics International : Official Journal of the Japan Pediatric Society, 0

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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."