Varaico: Literature-Extracted Genetic Variants

Gene:CCDC39
Variant:p.K389_E390Splc
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CCDC39

NM_181426.2:p.K389_E390Splc

Associated Papers

[Clinical and genetic analysis of a child with Primary ciliary dyskinesia variants and co-existence of CCDC39 gene variants and 22q11.21 deletion].

Chang J et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2025

Transcriptome of iPSC-derived neuronal cells reveals a module of co-expressed genes consistently associated with autism spectrum disorder.

Griesi-Oliveira K et al.

Molecular Psychiatry, 2021

32060413 (PubMed )
Supplement: 41380_2020_669_MOESM8_ESM.xlsx › ST4D-LoF_others
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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."