NUSAP1

Developmental and epileptic encephalopathy with congenital microcephaly

1 article(s) in the watch · Constitutional genetics

Curated publications

Pathogenicity of NUSAP1 Variants Is Defined by NMD-Escape: Evidence From Two Novel Cases and Systematic Population-Based Variant Analysis.

Developmental and epileptic encephalopathy with congenital microcephaly

Automatic aggregation page — a clinical introduction may be added.