Associated Papers
Intragenic homozygous duplication in HEPACAM is associated with megalencephalic leukoencephalopathy with subcortical cysts type 2A.
Kaur N et al.
Neurogenetics, 2024
Megalencephalic leukoencephalopathy with subcortical cysts: a variant update and review of the literature.
Passchier EMJ et al.
Frontiers in Genetics, 2024
Megalencephalic leukoencephalopathy with cysts in twelve Egyptian patients: novel mutations in MLC1 and HEPACAM and a founder effect.
Abdel-Salam GM et al.
Metabolic Brain Disease, 2016
Low-grade serous carcinomas of the ovary contain very few point mutations.
Jones S et al.
The Journal of Pathology, 2012
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