Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.T2682_I2683delFs
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ATM

NM_000051.4:p.T2682_I2683delFs

Associated Papers

A Novel Pathogenic Variant in NAGLU (N-Acetyl-Alpha-Glucosaminidase) gene Identified by Targeted Next-Generation Sequencing Followed by in Silico Analysis.

Khorrami M et al.

Iranian Journal of Child Neurology, 2019

A novel pathogenic variant in an Iranian Ataxia telangiectasia family revealed by next-generation sequencing followed by in silico analysis.

Tabatabaiefar MA et al.

Journal of the Neurological Sciences, 2017

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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."