Varaico: Literature-Extracted Genetic Variants

Gene:ZBTB11
Variant:p.H729Y
Back to variants list

ZBTB11

NM_014415.4:p.H729Y

Associated Papers

Biallelic ZBTB11 Variants: A Neurodevelopmental Condition with Progressive Complex Movement Disorders.

Ortigoza-Escobar JD et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2024

Immunogenomic analysis of human brain metastases reveals diverse immune landscapes across genetically distinct tumors.

Álvarez-Prado ÁF et al.

Cell Reports. Medicine, 2023

36652909 (PubMed )
Supplement: mmc3.xlsx › BrM40

ZBTB11 dysfunction: spectrum of brain abnormalities, biochemical signature and cellular consequences.

Sumathipala D et al.

Brain : a Journal of Neurology, 2022

Intellectual disability-associated factor Zbtb11 cooperates with NRF-2/GABP to control mitochondrial function.

Wilson BC et al.

Nature Communications, 2020

Biallelic missense variants in ZBTB11 can cause intellectual disability in humans.

Fattahi Z et al.

Human Molecular Genetics, 2018

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."