Associated Papers
A Novel Intronic Variant in FRMPD4 Disrupts Splicing: Case Report of an X-Linked Neurodevelopmental Disorder.
Satake T et al.
American Journal of Medical Genetics. Part A, 2025
Genetic analysis of a child with severe intellectual disability caused by a novel variant in the FERM domain of the FRMPD4 protein.
Pan H et al.
Journal of Genetics, 2024
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