Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.K2717_G2718Splc
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ATM

NM_000051.4:p.K2717_G2718Splc

Associated Papers

Diagnostic Yield and Genetic Burden Analysis of Frequently Mutated Genes in Progressive Ataxia.

Sharma P et al.

Annals of Indian Academy of Neurology, 2025

Clinical Impact of Next-generation Sequencing in Pediatric Neuro-Oncology Patients: A Single-institutional Experience.

Barsan V et al.

Cureus, 2019

Whole exome and targeted gene sequencing to detect pathogenic recessive variants in early onset cerebellar ataxia.

Shakya S et al.

Clinical Genetics, 2019

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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."