Associated Papers
Genome-wide DNA methylation profiling confirms a case of low-level mosaic Kabuki syndrome 1.
Montano C et al.
American Journal of Medical Genetics. Part A, 2022
A clinical survey of mosaic single nucleotide variants in disease-causing genes detected by exome sequencing.
Cao Y et al.
Genome Medicine, 2019
Exome Pool-Seq in neurodevelopmental disorders.
Popp B et al.
European Journal of Human Genetics : Ejhg, 2017
29158550 (PubMed )
Supplement: 41431_2017_22_MOESM5_ESM.xlsx › misCADD20to25
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