Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.Q2828fs
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ATM

NM_000051.4:p.Q2828fs

Associated Papers

Oxford Nanopore Technologies [ONT] Sequencing: Clinical Validation in Genetically Heterogeneous Disorders.

Urtis M et al.

Genes, 2025

41300778 (PubMed )
Supplement: genes-16-01325-s001.zip › genes-3897287-supplementary.pdf

Side-by-side comparison of next-generation sequencing, cytology, and histology in diagnosing locally advanced pancreatic adenocarcinoma.

Carrara S et al.

Gastrointestinal Endoscopy, 2021

Atypical Ataxia Presentation in Variant Ataxia Telangiectasia: Iranian Case-Series and Review of the Literature.

Moeini Shad T et al.

Frontiers in Immunology, 2021

35095854 (PubMed )
Supplement: DataSheet_1.pdf
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