Varaico: Literature-Extracted Genetic Variants

Gene:CCDC141
Variant:p.N926I
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CCDC141

NM_173648.4:p.N926I

Associated Papers

Genetic determinants of global developmental delay and intellectual disability in Ukrainian children.

Shchubelka K et al.

Journal of Neurodevelopmental Disorders, 2024

38539105 (PubMed )
Supplement: 11689_2024_9528_MOESM2_ESM.xlsx › Undiagnosed

Whole exome sequencing identifies deleterious rare variants in CCDC141 in familial self-limited delayed puberty.

Saengkaew T et al.

Npj Genomic Medicine, 2021

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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."