Varaico: Literature-Extracted Genetic Variants

Gene:SMARCC1
Variant:p.K891fs
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SMARCC1

NM_003074.4:p.K891fs

Associated Papers

A novel SMARCC1 BAFopathy implicates neural progenitor epigenetic dysregulation in human hydrocephalus.

Singh AK et al.

Brain : a Journal of Neurology, 2024

A novel SMARCC1 -mutant BAFopathy implicates epigenetic dysregulation of neural progenitors in hydrocephalus.

Singh AK et al.

Medrxiv : the Preprint Server for Health Sciences, 2023

Exome sequencing implicates genetic disruption of prenatal neuro-gliogenesis in sporadic congenital hydrocephalus.

Jin SC et al.

Nature Medicine, 2020

De Novo Mutation in Genes Regulating Neural Stem Cell Fate in Human Congenital Hydrocephalus.

Furey CG et al.

Neuron, 2018

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."