Varaico: Literature-Extracted Genetic Variants

Gene:SMARCC1
Variant:p.V535fs
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SMARCC1

NM_003074.4:p.V535fs

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

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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."