Varaico: Literature-Extracted Genetic Variants

Gene:POGZ
Variant:p.R674fs
Back to variants list

POGZ

NM_015100.4:p.R674fs

Associated Papers

White-Sutton Syndrome: Insight of an Italian Cohort of 19 Subjects.

Facchini A et al.

Clinical Genetics, 2026

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

Further delineation of the clinical spectrum of White-Sutton syndrome: 12 new individuals and a review of the literature.

Murch O et al.

European Journal of Human Genetics : Ejhg, 2022

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

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."