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
Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability.
Grozeva D et al.
Human Mutation, 2015
26350204 (PubMed )
Supplement: HUMU-36-1197-s001.pdf
Next-generation sequencing in X-linked intellectual disability.
Tzschach A et al.
European Journal of Human Genetics : Ejhg, 2015
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