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A deep intronic mutation causes RAD50 deficiency through an unusual mechanism of distant exon activation.
J Clin Invest. 2024 Dec 12:e178528. doi: 10.1172/JCI178528. Online ahead of print.
J Clin Invest. 2024.
PMID: 39666384
Free article.
No abstract available.
Frustraevo: a web server to localize and quantify the conservation of local energetic frustration in protein families.
Parra RG, Freiberger MI, Poley-Gil M, Fernandez-Martin M, Radusky LG, Ruiz-Serra V, Wolynes PG, Ferreiro DU, Valencia A.
Parra RG, et al. Among authors: poley gil m.
Nucleic Acids Res. 2024 Jul 5;52(W1):W233-W237. doi: 10.1093/nar/gkae244.
Nucleic Acids Res. 2024.
PMID: 38587198
Free PMC article.
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