Varaico: Literature-Extracted Genetic Variants

Gene:POGZ
Variant:p.E1047*
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POGZ

NM_015100.4:p.E1047*

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_MOESM6_ESM.xlsx › Supplementary_Data_4

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

Matsumura K et al.

Nature Communications, 2020

Phenotypic expansion of POGZ-related intellectual disability syndrome (White-Sutton syndrome).

Assia Batzir N et al.

American Journal of Medical Genetics. Part A, 2020

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

Stessman HAF et al.

American Journal of Human Genetics, 2016

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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."