Varaico: Literature-Extracted Genetic Variants

Gene:CEP104
Variant:p.N138delFs
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CEP104

NM_014704.4:p.N138delFs

Associated Papers

CEP104 gene may involve in the pathogenesis of a new developmental disorder other than joubert syndrome.

Badv RS et al.

Molecular Biology Reports, 2022

Whole exome sequencing reveals novel CEP104 mutations in a Chinese patient with Joubert syndrome.

Luo M et al.

Molecular Genetics & Genomic Medicine, 2019

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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."