Varaico: Literature-Extracted Genetic Variants

Gene:ZNF711
Variant:p.I244T
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ZNF711

NM_001330574.2:p.I244T

Associated Papers

Electroencephalographic and Epilepsy Findings in ZNF711 Variants: A Case Series of Two Siblings.

Minerva M et al.

Neurology International, 2025

Clinical findings and a DNA methylation signature in kindreds with alterations in ZNF711.

Wang J et al.

European Journal of Human Genetics : Ejhg, 2022

Analysis of a Set of KDM5C Regulatory Genes Mutated in Neurodevelopmental Disorders Identifies Temporal Coexpression Brain Signatures.

Poeta L et al.

Genes, 2021

Rare Genetic Variation in 135 Families With Family History Suggestive of X-Linked Intellectual Disability.

Sanchis-Juan A et al.

Frontiers in Genetics, 2019

31316545 (PubMed )
Supplement: Table_1.XLSX › Table_S1

Mutations in two large pedigrees highlight the role of ZNF711 in X-linked intellectual disability.

van der Werf IM et al.

Gene, 2017

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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."