Varaico: Literature-Extracted Genetic Variants

Gene:ZBTB11
Variant:p.R52W
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ZBTB11

NM_014415.4:p.R52W

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

Clinical application of next generation sequencing for Mendelian disease diagnosis in the Iranian population.

Abolhassani A et al.

Npj Genomic Medicine, 2024

38374194 (PubMed )
Supplement: 41525_2024_393_MOESM3_ESM.xlsx › Supplementary_Table_7

Biallelic ZBTB11 variants associated with complex neuropsychiatric phenotype featuring Tourette syndrome.

Scala M et al.

Brain : a Journal of Neurology, 2023

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

Sumathipala D et al.

Brain : a Journal of Neurology, 2022

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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."