Varaico: Literature-Extracted Genetic Variants

Gene:CHAMP1
Variant:p.S177fs
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CHAMP1

NM_032436.4:p.S177fs

Associated Papers

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

[Autosomal dominant intellectual disability-40 caused by a de novo mutation of the CHAMP1 gene: a case report].

Wang MM et al.

Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2020

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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."