Varaico: Literature-Extracted Genetic Variants

Gene:CHAMP1
Variant:p.E690fs
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CHAMP1

NM_032436.4:p.E690fs

Associated Papers

Neurodevelopmental phenotypes in individuals with pathogenic variants in CHAMP1.

Garrity M et al.

Cold Spring Harbor Molecular Case Studies, 2021

First Chinese patient with mental retardation-40 due to a de novo CHAMP1 frameshift mutation: Case report and literature review.

Dong Y et al.

Experimental and Therapeutic Medicine, 2021

Disturbed chromosome segregation and multipolar spindle formation in a patient with CHAMP1 mutation.

Okamoto N et al.

Molecular Genetics & Genomic Medicine, 2017

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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."