Associated Papers
First Report of a Familiar MYCBP2 Pathogenic Variant: Expanding the Knowledge of Neurodevelopmental Disorders.
Maleva Kostovska I et al.
Balkan Journal of Medical Genetics : Bjmg, 2025
Combining exome/genome sequencing with data repository analysis reveals novel gene-disease associations for a wide range of genetic disorders.
Bertoli-Avella AM et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
33875846 (PubMed )
Supplement: 41436_2021_1159_MOESM2_ESM.xlsx › Heterozygous_variants
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