Supplementary Figure S5 from Reclassification of ATM Missense Variants of Uncertain Significance by Integrating Results from Systematic Functional Assays into an ACMG Points–Based Framework Article Swipe
Related Concepts
Missense mutation
Computer science
Computational biology
Genetics
Biology
Mutation
Gene
Helmut Hanenberg
,
Fan Zhang
,
Nikita Malev
,
Constanze Wiek
,
Brett Klamer
,
Nicolas Nassar
,
Tyler Hesselbrock
,
Judith H. Hanenberg
,
Amber M. Aeilts
,
Julia Hentschel
,
Ulrike Faust
,
Andrea Gehrig
,
Christoph Engel
,
Jan Hauke
,
Dieter Niederacher
,
Amanda E. Toland
,
Paul R. Andreassen
·
YOU?
·
· 2025
· Open Access
·
· DOI: https://doi.org/10.1158/1078-0432.29313527
· OA: W4411285438
YOU?
·
· 2025
· Open Access
·
· DOI: https://doi.org/10.1158/1078-0432.29313527
· OA: W4411285438
<p>Immunoblots for nptII demonstrate instability of each of the 9 pathogenic truncating ATM controls.</p>
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