Varaico: Literature-Extracted Genetic Variants

Gene:ZMYND11
Variant:p.M187fs
Back to variants list

ZMYND11

NM_001370100.5:p.M187fs

Associated Papers

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

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."