Associated Papers
Molecular and functional profiling unravels targetable vulnerabilities in colorectal cancer.
Vlachavas EI et al.
Molecular Oncology, 2025
39876058 (PubMed )
Supplement: MOL2-19-1751-s006.xlsx › Sheet_1
De novo variants in PHF21A cause intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures: A case report and literature review.
Chen H et al.
Seizure, 2023
PHF21A Related Disorder: Description of a New Case.
Butera A et al.
International Journal of Molecular Sciences, 2022
Novel Pathogenic Variant (c.1171A>T) in PHF21A in a Female with Intellectual Disability and Craniofacial Anomalies.
Lee C et al.
Molecular Syndromology, 2022
Disruption of PHF21A causes syndromic intellectual disability with craniofacial anomalies, epilepsy, hypotonia, and neurobehavioral problems including autism.
Kim HG et al.
Molecular Autism, 2019
Variation in a range of mTOR-related genes associates with intracranial volume and intellectual disability.
Reijnders MRF et al.
Nature Communications, 2017
29051493 (PubMed )
Supplement: 41467_2017_933_MOESM5_ESM.xlsx › All_de_novo_mutations
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