Associated Papers
The impact of inversions across 33,924 families with rare disease from a national genome sequencing project.
Pagnamenta AT et al.
American Journal of Human Genetics, 2024
38776926 (PubMed )
Supplement: mmc4.pdf
MECP2 missense mutations outside the canonical MBD and TRD domains in males with intellectual disability.
Bianciardi L et al.
Journal of Human Genetics, 2016
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