Varaico: Literature-Extracted Genetic Variants

Gene:POGZ
Variant:p.F384insFs
Back to variants list

POGZ

NM_015100.4:p.F384insFs

Associated Papers

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

Duan J et al.

Bmc Pediatrics, 2023

37016333 (PubMed )
Supplement: 12887_2023_3972_MOESM1_ESM.xlsx › Sheet1

Genotype-Phenotype Comparison in POGZ-Related Neurodevelopmental Disorders by Using Clinical Scoring.

Nagy D et al.

Genes, 2022

35052493 (PubMed )
Supplement: genes-13-00154-s001.zip › SUPPLEMENTARY_TABLE_REVISED.xlsx › D_Genotype-Phenotype_comparison

Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.

Wang T et al.

Nature Communications, 2020

33004838 (PubMed )
Supplement: 41467_2020_18723_MOESM10_ESM.xlsx › Supplementary_Data_8

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

Matsumura K et al.

Nature Communications, 2020

32103003 (PubMed )
Supplement: 41467_2020_14697_MOESM1_ESM.pdf

POGZ-related epilepsy: Case report and review of the literature.

Ferretti A et al.

American Journal of Medical Genetics. Part A, 2019

Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders.

Stessman HAF et al.

American Journal of Human Genetics, 2016

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."