Varaico: Literature-Extracted Genetic Variants

Gene:WDPCP
Variant:p.E365G
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WDPCP

NM_015910.7:p.E365G

Associated Papers

Identification of conserved residues essential for the ciliogenic functions of WDPCP.

Choi YJ et al.

Disease Models & Mechanisms, 2025

Profiling genetic variants in cardiovascular disease genes among a Heterogeneous cohort of Mendelian conditions patients and electronic health records.

Akawi N et al.

Frontiers in Molecular Biosciences, 2024

39411402 (PubMed )
Supplement: Table1.XLSX › Supplemental_Table_S12

The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery.

Toriyama M et al.

Nature Genetics, 2016

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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."