Varaico: Literature-Extracted Genetic Variants

Gene:ZNF142
Variant:p.C1233F
Back to variants list

ZNF142

NM_001105537.4:p.C1233F

Associated Papers

A deleterious frameshift insertion mutation in the ZNF142 gene leads to intellectual developmental disorder with impaired speech in three affected siblings: Clinical features and literature review.

Mir A et al.

Molecular Genetics & Genomic Medicine, 2023

Biallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorder.

Christensen MB et al.

Clinical Genetics, 2022

ZNF142 mutation causes neurodevelopmental disorder with speech impairment and seizures: Novel variants and literature review.

Kamal N et al.

European Journal of Medical Genetics, 2022

Biallelic null variants in ZNF142 cause global developmental delay with familial epilepsy and dysmorphic features.

Kameyama S et al.

Journal of Human Genetics, 2022

Recessive variants in ZNF142 cause a complex neurodevelopmental disorder with intellectual disability, speech impairment, seizures, and dystonia.

Khan K et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019

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."