Associated Papers
ELFN1 deficiency: The mechanistic basis and phenotypic spectrum of a neurodevelopmental disorder with epilepsy.
Dore R et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2025
Exome sequencing identifies novel and known mutations in families with intellectual disability.
Rasheed M et al.
Bmc Medical Genomics, 2021
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