Varaico: Literature-Extracted Genetic Variants

Gene:ZBTB11
Variant:p.H880Q
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ZBTB11

NM_014415.4:p.H880Q

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

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

Mapping autosomal recessive intellectual disability: combined microarray and exome sequencing identifies 26 novel candidate genes in 192 consanguineous families.

Harripaul R et al.

Molecular Psychiatry, 2018

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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."