Varaico: Literature-Extracted Genetic Variants

Gene:ZMYND11
Variant:p.S421N
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ZMYND11

NM_001370100.5:p.S421N

Associated Papers

Probing the biological consequences of a previously undescribed de novo mutation of ZMYND11 in a schizophrenia patient by CRISPR genome editing and induced pluripotent stem cell based in vitro disease-modeling.

Tordai C et al.

Schizophrenia Research, 2024

Further Delineation of Clinical Phenotype of ZMYND11 Variants in Patients with Neurodevelopmental Dysmorphic Syndrome.

Bodetko A et al.

Genes, 2024

Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.

Wang T et al.

Nature Communications, 2020

33004838 (PubMed )
Supplement: 41467_2020_18723_MOESM10_ESM.xlsx › Supplementary_Data_8

ZMYND11-related syndromic intellectual disability: 16 patients delineating and expanding the phenotypic spectrum.

Yates TM et al.

Human Mutation, 2020

The functional landscape of the human phosphoproteome.

Ochoa D et al.

Nature Biotechnology, 2020

31819260 (PubMed )
Supplement: EMS84831-supplement-Table_S5.xlsx › clinvar_data

A de novo missense mutation in ZMYND11 is associated with global developmental delay, seizures, and hypotonia.

Moskowitz AM et al.

Cold Spring Harbor Molecular Case Studies, 2016

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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."