Associated Papers
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
Expanding the phenotypic spectrum associated with OPHN1 mutations: Report of 17 individuals with intellectual disability but no cerebellar hypoplasia.
Moortgat S et al.
European Journal of Medical Genetics, 2018
Oligophrenin 1 mutations frequently cause X-linked mental retardation with cerebellar hypoplasia.
Zanni G et al.
Neurology, 2005
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