Varaico: Literature-Extracted Genetic Variants

Gene:POGZ
Variant:p.Q1038R
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POGZ

NM_015100.4:p.Q1038R

Associated Papers

White-Sutton syndrome and congenital heart disease: case report and literature review.

Duan J et al.

Bmc Pediatrics, 2023

A convergent mechanism of high risk factors ADNP and POGZ in neurodevelopmental disorders.

Conrow-Graham M et al.

Brain : a Journal of Neurology, 2022

A recurrent SHANK1 mutation implicated in autism spectrum disorder causes autistic-like core behaviors in mice via downregulation of mGluR1-IP3R1-calcium signaling.

Qin Y et al.

Molecular Psychiatry, 2022

35388181 (PubMed )
Supplement: 41380_2022_1539_MOESM1_ESM.docx

Molecular brain (micro report) oxytocin ameliorates impaired social behavior in a mouse model of 3q29 deletion syndrome.

Takemoto T et al.

Molecular Brain, 2022

Case Report: Association of Comorbid Psychiatric Disorders and Sigmoid Prolapse with de novo POGZ Mutation.

Wright CM et al.

Journal of Autism and Developmental Disorders, 2022

Deficiency of CHAMP1, a gene related to intellectual disability, causes impaired neuronal development and a mild behavioural phenotype.

Nagai M et al.

Brain Communications, 2022

Intranasal oxytocin administration ameliorates social behavioral deficits in a POGZWT/Q1038R mouse model of autism spectrum disorder.

Kitagawa K et al.

Molecular Brain, 2021

Pathogenic POGZ mutation causes impaired cortical development and reversible autism-like phenotypes.

Matsumura K et al.

Nature Communications, 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."