Varaico: Literature-Extracted Genetic Variants

Gene:CPLANE1
Variant:p.E142K
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CPLANE1

NM_001384732.1:p.E142K

Associated Papers

New-Onset Type 1 Diabetes in a Child with Joubert Syndrome: A Rare Endocrine Complication.

Furuta Y et al.

Reports (mdpi), 2025

High Incidence of CPLANE1-Related Joubert Syndrome in the Products of Conceptions from Early Pregnancy Losses

Bozhinovski G et al.

Balkan Medical Journal, 2024

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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."