… Functional tests of mutated pendrin allelic variants found in patients with Pendred syndrome
or ns-EVA revealed that the pathology is linked to a reduction or a loss of function … functional …

… ‐function variant CYP2C19*2 affects clinical profiles of clopidogrel (efficacy and safety).
However, data on the impact of a gain‐of‐function variant … CYP2C19*17 variant in patients taking …

… on the functional importance implied by directional selection in humans, we hypothesized
that representation of MAE genes would vary based on the predicted role of the variant allele. …

… Here, to investigate the potential role of escape from NMD for variant alleles implicated in
human disease, we designed an efficient tool, NMDEscPredictor, to predict whether a given …

… ) variant shows weaker spatial positioning and tRNA selectivity. We conclude that de novo
and bi-allelic … mechanism for de novo variants could be toxic gain-of-function and for recessive …

… functional variants and also sought to analyze two recently-described SNPs associated with
allelic … and which is part of a presumed gain-of-function haplotype associated with OCD. …

… As all known GOF mutant alleles underlying PIDs are hypermorphic, we will use GOF to …
The aHUS-causing variants, either by conferring a GOF on activators or a LOF on regulators, …

… T cells from carriers of the predisposing allele produce less … autoimmune-predisposing
allele is a gain-of-function mutant. … variant that causes autoimmune disease is a gain-of-function …

… A variant of IL-4R in which an arginine replaces a glutamine … whether any of these allelic
variants could increase the … whether IL-4Rs containing allelic variant substitutions can increase …

… A benefit of this approach could be that multiple SNP targets could be inserted into the
mutant allele variant. Therefore, cooperative ASO effects could also be part of an in vitro …