Varaico: Literature-Extracted Genetic Variants

Gene:CHAMP1
Variant:p.F485fs
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CHAMP1

NM_032436.4:p.F485fs

Associated Papers

De novo pathogenic variants in CHAMP1 are associated with global developmental delay, intellectual disability, and dysmorphic facial features.

Tanaka AJ et al.

Cold Spring Harbor Molecular Case Studies, 2016

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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."