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Summary Anatomy Item Literature (7748) Expression Attributions Wiki
XB-ANAT-11

Papers associated with brain (and neurod2)

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A novel SMARCC1 BAFopathy implicates neural progenitor epigenetic dysregulation in human hydrocephalus., Singh AK., Brain. April 4, 2024; 147 (4): 1553-1570.

A novel SMARCC1 -mutant BAFopathy implicates epigenetic dysregulation of neural progenitors in hydrocephalus., Singh AK., medRxiv. March 20, 2023;


Expansion of NEUROD2 phenotypes to include developmental delay without seizures., Mis EK., Am J Med Genet A. April 1, 2021; 185 (4): 1076-1080.

De novo pathogenic variants in neuronal differentiation factor 2 (NEUROD2) cause a form of early infantile epileptic encephalopathy., Sega AG., J Med Genet. February 1, 2019; 56 (2): 113-122.      

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