Observational analysis identifies functional changes linked to non-missense variants in RELA, suggesting improved diagnostics for deficiencies.
The positions of non-missense deleterious variants in RELA allow the estimation of the associated functional changes, facilitating the precise diagnosis of AD RelA deficiency. Conversely, RELA missense variants require functional verification, as their impact cannot be predicted solely from their position.
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Hayakawa et al. (2026) studied this question.
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