Associated Papers
A cardiovascular, craniofacial, and neurodevelopmental disorder caused by loss-of-function variants in the eIF3 complex component genes EIF3A and EIF3B.
Erkut E et al.
American Journal of Human Genetics, 2025
41033306 (PubMed )
Supplement: mmc1.pdf
De novo KCNK4 variant caused epilepsy with febrile seizures plus, neurodevelopmental abnormalities, and hypertrichosis.
Yan HJ et al.
Frontiers in Genetics, 2025
40230348 (PubMed )
Supplement: Table1.xlsx › VUS
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