Varaico: Literature-Extracted Genetic Variants

Gene:CEP164
Variant:p.P494insFs
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CEP164

NM_014956.5:p.P494insFs

Associated Papers

Potential Involvements of Cilia-Centrosomal Genes in Primary Congenital Glaucoma.

Pyatla G et al.

International Journal of Molecular Sciences, 2024

39337513 (PubMed )
Supplement: ijms-25-10028-s001.zip › Copy_of_Revised_Table_S3_CEP164_reported_phenotypes.xlsx › Sheet1

Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.

Akhavanfard S et al.

Nature Communications, 2020

32371905 (PubMed )
Supplement: 41467_2020_16067_MOESM12_ESM.xlsx › Supplementary_Data_9
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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."