Associated Papers
The genetic spectrum features of 2261 Chinese children with epilepsy and intellectual disability.
Pang N et al.
Bmc Medicine, 2025
40598568 (PubMed )
Supplement: 12916_2025_4220_MOESM1_ESM.xlsx › Table_S3
IFT81, encoding an IFT-B core protein, as a very rare cause of a ciliopathy phenotype.
Perrault I et al.
Journal of Medical Genetics, 2015
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