Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.G2496G
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ATM

NM_000051.4:p.G2496G

Associated Papers

Combined bioinformatic and splicing analysis of likely benign intronic and synonymous variants reveals evidence for pathogenicity.

Hirschi OR et al.

Genetics in Medicine Open, 2024

39669609 (PubMed )
Supplement: mmc1.pdf

Combined Bioinformatic and Splicing Analysis of Likely Benign Intronic and Synonymous Variants Reveals Evidence for Pathogenicity.

Hirschi OR et al.

Medrxiv : the Preprint Server for Health Sciences, 2023

37961416 (PubMed )
Supplement: media-1.xlsx › S4
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