Associated Papers
Identification of a novel de novo AFF4 variant (c.778A>G) associated with CHOPS syndrome.
Deng X et al.
Intractable & Rare Diseases Research, 2025
A common molecular mechanism underlying Cornelia de Lange and CHOPS syndromes.
Sakata T et al.
Current Biology : Cb, 2025
Cornelia de Lange Syndrome as Paradigm of Chromatinopathies.
Parenti I et al.
Frontiers in Neuroscience, 2021
Clinical and molecular spectrum of CHOPS syndrome.
Raible SE et al.
American Journal of Medical Genetics. Part A, 2019
iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.
Wang M et al.
Scientific Reports, 2016
27527004 (PubMed )
Supplement: srep31321-s3.xls › NovelVar
Germline gain-of-function mutations in AFF4 cause a developmental syndrome functionally linking the super elongation complex and cohesin.
Izumi K et al.
Nature Genetics, 2015
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