Varaico: Literature-Extracted Genetic Variants

Gene:ZMYND11
Variant:p.D480fs
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ZMYND11

NM_001370100.5:p.D480fs

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

Cornelia de Lange Syndrome as Paradigm of Chromatinopathies.

Parenti I et al.

Frontiers in Neuroscience, 2021

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

Yates TM et al.

Human Mutation, 2020

Comprehensive genetic analysis of 57 families with clinically suspected Cornelia de Lange syndrome.

Aoi H et al.

Journal of Human Genetics, 2019

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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."