Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.Q2733P
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ATM

NM_000051.4:p.Q2733P

Associated Papers

Identification of PKHD1 mutations in Brain, Breast and Rectal tumors by Next Generation DNA Sequencing.

Mohammed Almehmadi D et al.

The Gulf Journal of Oncology, 2021

Compound Heterozygous Variants in Pediatric Cancers: A Systematic Review.

Miller DB et al.

Frontiers in Genetics, 2020

32508881 (PubMed )
Supplement: Data_Sheet_1.xlsx › T2

Next generation DNA sequencing of atypical choroid plexus papilloma of brain: Identification of novel mutations in a female patient by Ion Proton.

Taher MM et al.

Oncology Letters, 2019

Novel compound heterozygous mutations in a child with Ataxia-Telangiectasia showing unrelated cerebellar disorders.

Piane M et al.

Journal of the Neurological Sciences, 2016

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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."