Varaico: Literature-Extracted Genetic Variants

Gene:AUTS2
Variant:p.T534P
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AUTS2

NM_015570.4:p.T534P

Associated Papers

Human AUTS2 regulates neurodevelopmental pathways via dual DNA/RNA binding.

Saia Cereda VAM et al.

Biorxiv : the Preprint Server for Biology, 2025

Further Delineation of the AUTS2 HX Repeat Domain-Related Phenotype.

Erdogan EN et al.

American Journal of Medical Genetics. Part A, 2025

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

The microcephaly-associated transcriptional regulator AUTS2 cooperates with Polycomb complex PRC2 to produce upper-layer neurons in mice.

Shimaoka K et al.

The Embo Journal, 2025

H2A monoubiquitination: insights from human genetics and animal models.

Ryan CW et al.

Human Genetics, 2024

Isolated loss of the AUTS2 long isoform, brain-wide or targeted to Calbindin-lineage cells, generates a specific suite of brain, behavioral, and molecular pathologies.

Song Y et al.

Genetics, 2024

Cerebral organoids containing an AUTS2 missense variant model microcephaly.

Fair SR et al.

Brain : a Journal of Neurology, 2023

NRF1 association with AUTS2-Polycomb mediates specific gene activation in the brain.

Liu S et al.

Molecular Cell, 2021

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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."