Varaico: Literature-Extracted Genetic Variants

Gene:CHTOP
Variant:p.R90*
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CHTOP

NM_015607.4:p.R90*

Associated Papers

Genotypic, functional, and phenotypic characterization in CTNNB1 neurodevelopmental syndrome.

Žakelj N et al.

Hgg Advances, 2025

40684264 (PubMed )
Supplement: mmc5.pdf
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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."