Varaico: Literature-Extracted Genetic Variants

Gene:CHD5
Variant:p.T157M
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CHD5

NM_015557.3:p.T157M

Associated Papers

Mutations of 1p genes do not consistently abrogate tumor suppressor functions in 1p-intact neuroblastoma.

Kuick CH et al.

Bmc Cancer, 2022

Lipin 1 deficiency causes adult-onset myasthenia with motor neuron dysfunction in humans and neuromuscular junction defects in zebrafish.

Lu S et al.

Theranostics, 2021

33456573 (PubMed )
Supplement: thnov11p2788s1.pdf

Novel NOG (p.P42S) mutation causes proximal symphalangism in a four-generation Chinese family.

Sha Y et al.

Bmc Medical Genetics, 2019

31370824 (PubMed )
Supplement: 12881_2019_864_MOESM2_ESM.xlsx › Sheet1

Role of CHD5 in human cancers: 10 years later.

Kolla V et al.

Cancer Research, 2014

Chromodomain helicase DNA binding protein 5 plays a tumor suppressor role in human breast cancer.

Wu X et al.

Breast Cancer Research : Bcr, 2012

Mechanisms of CHD5 Inactivation in neuroblastomas.

Koyama H et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2012

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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."