Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.L516S
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ATM

NM_000051.4:p.L516S

Associated Papers

Pathogenic genetic variants from highly connected cancer susceptibility genes confer the loss of structural stability.

Reza MN et al.

Scientific Reports, 2021

34584144 (PubMed )
Supplement: 41598_2021_98547_MOESM1_ESM.zip › Supplementary_files-5-8-21 › Supplementary_file_5.xlsx › Sheet1

Secondary enuresis and urological manifestations in children with ataxia telangiectasia.

Nissenkorn A et al.

European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2018

Malignant Peritoneal Mesothelioma in an Infant With Familial ATM Mutations.

Mijalovsky A et al.

Journal of Pediatric Hematology/oncology, 2018

Liver Disease in Pediatric Patients With Ataxia Telangiectasia: A Novel Report.

Weiss B et al.

Journal of Pediatric Gastroenterology and Nutrition, 2016

Disturbed B and T cell homeostasis and neogenesis in patients with ataxia telangiectasia.

Kraus M et al.

Journal of Clinical Immunology, 2014

Acute lymphoblastic leukemia in early childhood as the presenting sign of ataxia-telangiectasia variant.

Bielorai B et al.

Pediatric Hematology and Oncology, 2013

Neurologic presentation in children with ataxia-telangiectasia: is small head circumference a hallmark of the disease?

Nissenkorn A et al.

The Journal of Pediatrics, 2011

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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."