Varaico: Literature-Extracted Genetic Variants

Gene:HDAC3
Variant:p.L266S
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HDAC3

NM_003883.4:p.L266S

Associated Papers

De novo missense variants in HDAC3 leading to epigenetic machinery dysfunction are associated with a variable neurodevelopmental disorder.

Yoon JG et al.

American Journal of Human Genetics, 2024

A Comprehensive Study of De Novo Mutations on the Protein-Protein Interaction Interfaces Provides New Insights into Developmental Delay.

Maharjan DT et al.

Biomolecules, 2022

36358993 (PubMed )
Supplement: biomolecules-12-01643-s001.zip › Supplemental_Table_S2____PsychiPPI_in_developmental_delay.xlsx › Sheet1

Nuclear receptor corepressors in intellectual disability and autism.

Kong Y et al.

Molecular Psychiatry, 2020

Nuclear Receptor Coactivators (NCOAs) and Corepressors (NCORs) in the Brain.

Sun Z et al.

Endocrinology, 2020

Loss of function of NCOR1 and NCOR2 impairs memory through a novel GABAergic hypothalamus-CA3 projection.

Zhou W et al.

Nature Neuroscience, 2019

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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."