Varaico: Literature-Extracted Genetic Variants

Gene:CCDC141
Variant:p.R123G
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CCDC141

NM_173648.4:p.R123G

Associated Papers

ccdc141 is required for left-right axis development by regulating cilia formation in the Kupffer's vesicle of zebrafish.

Wang P et al.

Journal of Genetics and Genomics = Yi Chuan Xue Bao, 2024

Genotypic and phenotypic spectrum of CCDC141 variants in a Chinese cohort with congenital hypogonadotropic hypogonadism.

Hou Q et al.

European Journal of Endocrinology, 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."