Associated Papers
Assessment of parental mosaicism rates in neurodevelopmental disorders caused by apparent de novo pathogenic variants using deep sequencing.
Lecoquierre F et al.
Scientific Reports, 2024
38438430 (PubMed )
Supplement: 41598_2024_53358_MOESM2_ESM.xlsx › Supp_table_1_variants_analyzed
Mutation screening of the MECP2 gene in a large cohort of 613 fragile-X negative patients with mental retardation.
Lesca G et al.
European Journal of Medical Genetics, 0
Select a paper to view details