Varaico: Literature-Extracted Genetic Variants

Gene:CPLANE2
Variant:p.V169D
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CPLANE2

NM_030907.4:p.V169D

Associated Papers

Moderate levels of folic acid benefit outcomes for cilia based neural tube defects.

Engelhardt D et al.

Developmental Biology, 2025

RSG1 is required for cilia-dependent neural tube closure.

Engelhardt D et al.

Genesis (new York, N.y. : 2000), 2024

The small GTPase RSG1 controls a final step in primary cilia initiation.

Agbu SO et al.

The Journal of Cell Biology, 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."