https://hsrc.himmelfarb.gwu.edu/gwhpubs/8127/
"Exon-skipping due to bi-allelic splice site mutations in the neurodeve" by Rose M. Doss, Sara A....
Homozygous loss-of-function mutations in LNPK, the gene encoding the endoplasmic reticulum-associated protein lunapark, have previously been linked to an...
https://digitalcommons.wustl.edu/oa_4/5241/
"The gain-of-function UBE3AQ588E variant causes Angelman-like neurodeve" by Kellan P Weston, Anna M...
Mutations in the E3 ubiquitin ligase UBE3A that cause enzymatic gain-of-function result in disease phenotypes which differ from classic Angelman syndrome....