Associated Papers
Mutation profiling in eight cases of vagal paragangliomas.
Kudryavtseva AV et al.
Bmc Medical Genomics, 2020
32948195 (PubMed )
Supplement: 12920_2020_763_MOESM1_ESM.xls › Pat6
De novo missense variant in the GTPase effector domain (GED) of DNM1L leads to static encephalopathy and seizures.
Assia Batzir N et al.
Cold Spring Harbor Molecular Case Studies, 2019
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