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
Protein elongation variant of PUF60: Milder phenotypic end of the Verheij syndrome.
Yamada M et al.
American Journal of Medical Genetics. Part A, 2020
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