Associated Papers
A deep intronic variant in DNM1 in a patient with developmental and epileptic encephalopathy creates a splice acceptor site and affects only transcript variants including exon 10a.
Harms FL et al.
Neurogenetics, 2023
Truncated DNM1 variant underlines developmental delay and epileptic encephalopathy.
Afsar T et al.
Frontiers in Pediatrics, 2023
Disease-associated mutations affect intracellular traffic and paracellular Mg2+ transport function of Claudin-16.
Kausalya PJ et al.
The Journal of Clinical Investigation, 2006
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