Varaico: Literature-Extracted Genetic Variants

Gene:CEP89
Variant:p.K138fs
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CEP89

NM_032816.5:p.K138fs

Associated Papers

Molecular mechanism of mitochondrial respiratory chain assembly and its relation to mitochondrial diseases.

Mukherjee S et al.

Mitochondrion, 2020

Genetic defects in ciliary genes in autosomal dominant polycystic kidney disease.

Skalická K et al.

World Journal of Nephrology, 2018

Early Onset Multiple Primary Tumors in Atypical Presentation of Cowden Syndrome Identified by Whole-Exome-Sequencing.

Cavaillé M et al.

Frontiers in Genetics, 2018

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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."