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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CPLANE2

Variant:p.R188W

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CPLANE2

NM_030907.4:p.R188W

hg38:chr1:16232263 G>A

Associated Papers

The human ciliopathy protein RSG1 links the CPLANE complex to transition zone architecture.

Vazquez N et al.

Nature Communications, 2025

40593758 (PubMed )

The human ciliopathy protein RSG1 links the CPLANE complex to transition zone architecture.

Vazquez N et al.

Biorxiv : the Preprint Server for Biology, 2024

39386566 (PubMed )

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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."