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Paper Details

Variants in SART3 cause a spliceosomopathy characterised by failure of testis development and neuronal defects.
Nat Commun
0
2023
Drosophila, GONadal dysgenesis, Human, Human induced pluripotent stem cells, INDYGON syndrome, Intellectual disability, Neurodevelopmental defects, SART3, SART3 variants, Squamous cell carcinoma antigen recognized by T cells 3, brain anomalies, failure of testis development, global developmental delay, gonadal dysgenesis, intellectual disability, neuronal defects, patient, small nuclear RNAs, spliceosomopathy
Author NameAffiliation
Katie L AyersThe Murdoch Children's Research Institute
Katie L AyersThe University of Melbourne
Stefanie EggersThe Victorian Clinical Genetics Services
Gorjana RobevskaThe Murdoch Children's Research Institute
Jocelyn van den BergenThe Murdoch Children's Research Institute
Melanie BahloWalter and Eliza Hall Institute of Medical Research
Melanie BahloUniversity of Melbourne
Enrico BertiniBambino Gesu Children's Hospital, IRCCS
Enrico BertiniBambino Gesu Children's Hospital, IRCCS
Andrew H SinclairThe Murdoch Children's Research Institute
Andrew H SinclairThe University of Melbourne
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