Varaico: Literature-Extracted Genetic Variants

Gene:ZEB2
Variant:p.L894delFs
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ZEB2

NM_014795.4:p.L894delFs

Associated Papers

Modeling Mowat-Wilson syndrome with patient iPSCs reveals transcriptional and phenotypic defects in neural progenitors.

Musante I et al.

Neurobiology of Disease, 2026

Identification of the DNA methylation signature of Mowat-Wilson syndrome.

Caraffi SG et al.

European Journal of Human Genetics : Ejhg, 2024

38351292 (PubMed )
Supplement: 41431_2024_1548_MOESM1_ESM.pdf

Generation of two iPSC lines from Mowat-Wilson syndrome patients carrying heterozygous ZEB2 mutations.

Gorrieri G et al.

Stem Cell Research, 2024

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