Varaico: Literature-Extracted Genetic Variants

Gene:ZMYND11
Variant:p.Q326*
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ZMYND11

NM_001370100.5:p.Q326*

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

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

Yates TM et al.

Human Mutation, 2020

Phenotype comparison confirms ZMYND11 as a critical gene for 10p15.3 microdeletion syndrome.

Tumiene B et al.

Journal of Applied Genetics, 2017

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

Refining analyses of copy number variation identifies specific genes associated with developmental delay.

Coe BP et al.

Nature Genetics, 2014

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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."