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
Protein domains provide a new layer of information for classifying human variations in rare diseases.
Corcuff M et al.
Frontiers in Bioinformatics, 2023
36896423 (PubMed )
Supplement: Table1.XLSX › Supplementary_Table_1
Oligophrenin 1 mutations frequently cause X-linked mental retardation with cerebellar hypoplasia.
Zanni G et al.
Neurology, 2005
A gene for non-specific X-linked mental retardation (MRX55) is located in Xp11.
Deqaqi SC et al.
Annales De Genetique, 1998
Determination of the gene structure of human oligophrenin-1 and identification of three novel polymorphisms by screening of DNA from 164 patients with non-specific X-linked mental retardation.
Billuart P et al.
Annales De Genetique, 0
Select a paper to view details