Varaico: Literature-Extracted Genetic Variants

Gene:NACC1
Variant:p.R468C
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NACC1

NM_052876.4:p.R468C

Associated Papers

Structural basis of DNA recognition by BEN domain proteins reveals a role for oligomerization in unmethylated DNA selection by BANP.

Ren J et al.

Nucleic Acids Research, 2024

A New Case of de novo Variant c.892C>T (p.Arg298Trp) in NACC1: A First Case Report From China.

Lyu B et al.

Frontiers in Pediatrics, 2021

Prioritized High-Confidence Risk Genes for Intellectual Disability Reveal Molecular Convergence During Brain Development.

Liu Z et al.

Frontiers in Genetics, 2018

30279698 (PubMed )
Supplement: Table_2.XLS › Sheet1

A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay.

Schoch K et al.

American Journal of Human Genetics, 2017

Genome sequencing identifies major causes of severe intellectual disability.

Gilissen C et al.

Nature, 2014

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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."