Varaico: Literature-Extracted Genetic Variants

Gene:CEP104
Variant:p.L634fs
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CEP104

NM_014704.4:p.L634fs

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

CEP104 and CEP290; Genes with Ciliary Functions Cause Intellectual Disability in Multiple Families.

Khoshbakht S et al.

Archives of Iranian 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."