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Biallelic Variants in RNU6ATAC Result in a Minor Spliceopathy Characterized by Transcriptome-Wide Minor Intron Retention Events and Short Stature with Variable Multisystem Manifestations

Genome-Wide Analysis of RNU6ATAC Variants The investigation of RNU6ATAC variants has unveiled significant insights into the genetic underpinnings of minor […]

Biallelic Variants in RNU6ATAC Result in a Minor Spliceopathy Characterized by Transcriptome-Wide Minor Intron Retention Events and Short Stature with Variable Multisystem Manifestations Read Post »

Biallelic Variants in RNU6ATAC Result in a Minor Spliceopathy Characterized by Transcriptome-Wide Minor Intron Retention Events and Short Stature with Variable Multisystem Manifestations

Background on RNU6ATAC and Minor Spliceopathy RNU6ATAC is a crucial component of the spliceosome, the cellular machinery responsible for the

Biallelic Variants in RNU6ATAC Result in a Minor Spliceopathy Characterized by Transcriptome-Wide Minor Intron Retention Events and Short Stature with Variable Multisystem Manifestations Read Post »

Perinatal, neurodevelopmental and childhood health factors in patients with functional neurological disorder: a retrospective case-record study in a tertiary neuropsychiatry cohort

Study Overview This research explores the connection between perinatal, neurodevelopmental, and childhood health factors and the onset of functional neurological

Perinatal, neurodevelopmental and childhood health factors in patients with functional neurological disorder: a retrospective case-record study in a tertiary neuropsychiatry cohort Read Post »

Perinatal, neurodevelopmental and childhood health factors in patients with functional neurological disorder: a retrospective case-record study in a tertiary neuropsychiatry cohort

Study Overview This study delves into the intricate relationship between perinatal, neurodevelopmental, and childhood health factors in patients diagnosed with

Perinatal, neurodevelopmental and childhood health factors in patients with functional neurological disorder: a retrospective case-record study in a tertiary neuropsychiatry cohort Read Post »

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