Fig. 4: Prevalence and risk of neurological phenotypes among pooled variants (including data from the GRIN Portal and the SNUH cohort), stratified by variant domains. | npj Genomic Medicine

Fig. 4: Prevalence and risk of neurological phenotypes among pooled variants (including data from the GRIN Portal and the SNUH cohort), stratified by variant domains.

From: Exploring gene-phenotype relationships in GRIN-related neurodevelopmental disorders

Fig. 4: Prevalence and risk of neurological phenotypes among pooled variants (including data from the GRIN Portal and the SNUH cohort), stratified by variant domains.

a Comparisons among M3–M4 helices, other domains, and PTVs. b Prevalence and risk of neurological phenotypes across missense or in-frame variant domains (other domains, M3 helix, and M4 helix of each GRIN gene) presented as odds ratios with 95% confidence intervals, adjusted for GRIN gene subtypes. ap < 0.05 for comparisons between missense or in-frame variants in M3–M4 helices and those in other domains. bp < 0.05 for comparisons between in-frame variants in the M3–M4 helices and PTVs. cp < 0.05 for comparisons between missense or in-frame variants in other domains and PTVs. *p < 0.05. GDD global developmental delay, ASD autism spectrum disorder, MD movement disorder, CVI cortical visual impairment, MCD malformation of cortical development.

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