Associated Papers
Monogenic defects in Russian children with autism spectrum disorders.
Suspitsin EN et al.
World Journal of Clinical Pediatrics, 2025
Effect of the OPHN1 novel variant c.1025+1 G>A on RNA splicing: insights from a minigene assay.
Yang F et al.
Bmc Medical Genomics, 2024
38956616 (PubMed )
Supplement: 12920_2024_1952_MOESM1_ESM.xlsx › Sheet1
Novel unconventional variants expand the allelic spectrum of OPHN1 gene.
Nuovo S et al.
American Journal of Medical Genetics. Part A, 2021
Expanding the phenotypic spectrum associated with OPHN1 variants.
Schwartz TS et al.
European Journal of Medical Genetics, 2019
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