Associated Papers
Prioritizing de novo potential non-canonical splicing variants in neurodevelopmental disorders.
Li K et al.
Ebiomedicine, 2024
38113761 (PubMed )
Supplement: mmc2.xlsx › Table_S4
Focal segmental glomerulosclerosis and neurogenic bladder in a Chinese patient with a novel de novo pathogenic variation in TRIM8 gene: A case report.
Luo DY et al.
Sage Open Medical Case Reports, 2024
Two Children With Steroid-Resistant Significant Proteinuria Due to Nonsense Mutations of the TRIM8 Gene: A Case Report and Literature Review.
Li X et al.
Frontiers in Pediatrics, 2022
Further delineation of the clinical spectrum of de novo TRIM8 truncating mutations.
Assoum M et al.
American Journal of Medical Genetics. Part A, 2018
De Novo Truncating Mutation of TRIM8 Causes Early-Onset Epileptic Encephalopathy.
Sakai Y et al.
Annals of Human Genetics, 2016
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