Varaico: Literature-Extracted Genetic Variants

Gene:POGZ
Variant:p.N941fs
Back to variants list

POGZ

NM_015100.4:p.N941fs

Associated Papers

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

Duan J et al.

Bmc Pediatrics, 2023

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

Assia Batzir N et al.

American Journal of Medical Genetics. Part A, 2020

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

Ferretti A et al.

American Journal of Medical Genetics. Part A, 2019

Expanding the phenotypic spectrum of truncating POGZ mutations: Association with CNS malformations, skeletal abnormalities, and distinctive facial dysmorphism.

Dentici ML et al.

American Journal of Medical Genetics. Part A, 2017

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."