Varaico: Literature-Extracted Genetic Variants

Gene:POGZ
Variant:p.Y1069*
Back to variants list

POGZ

NM_015100.4:p.Y1069*

Associated Papers

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 › B_detailed_literature

Interest of exome sequencing trio-like strategy based on pooled parental DNA for diagnosis and translational research in rare diseases.

Tran Mau-Them F et al.

Molecular Genetics & Genomic Medicine, 2021

Neuropsychological study in 19 French patients with White-Sutton syndrome and POGZ mutations.

Garde A et al.

Clinical Genetics, 2021

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."