Varaico: Literature-Extracted Genetic Variants

Gene:CTU2
Variant:p.S294*
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CTU2

NM_001012759.3:p.S294*

Associated Papers

Rare diseases load through the study of a regional population.

Michel É et al.

Plos Genetics, 2025

Exome Sequencing in 200 Intellectual Disability/Autistic Patients: New Candidates and Atypical Presentations.

Valentino F et al.

Brain Sciences, 2021

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 1843.647
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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."