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
A novel pathogenic variant of CEP164 in an infant with Senior-Loken syndrome.
Liu L et al.
Pediatric Investigation, 2023
37324592 (PubMed )
Supplement: PED4-7-140-s001.pdf
Analysis of clinically relevant variants from ancestrally diverse Asian genomes.
Chan SH et al.
Nature Communications, 2022
36335097 (PubMed )
Supplement: 41467_2022_34116_MOESM4_ESM.zip › NCOMMS-22-14716A_SupplementaryData › NCOMM-22-14716A_SupplementaryData_2.xlsx › SuppData_2
Clinical and genetic analyses of a Dutch cohort of 40 patients with a nephronophthisis-related ciliopathy.
Stokman MF et al.
Pediatric Nephrology (berlin, Germany), 2018
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