Varaico: Literature-Extracted Genetic Variants

Gene:AUTS2
Variant:p.R152*
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AUTS2

NM_015570.4:p.R152*

Associated Papers

AUTS2-related syndrome: Insights from a large European cohort.

Loberti L et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2025

Targeted sequencing and integrative analysis to prioritize candidate genes in neurodevelopmental disorders.

Zhang Y et al.

Molecular Neurobiology, 2021

33860439 (PubMed )
Supplement: 12035_2021_2377_MOESM14_ESM.xlsx › NDD_probands__public_

De novo mutations in schizophrenia implicate chromatin remodeling and support a genetic overlap with autism and intellectual disability.

McCarthy SE et al.

Molecular Psychiatry, 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."