Varaico: Literature-Extracted Genetic Variants

Gene:CPLANE1
Variant:p.R2467fs
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CPLANE1

NM_001384732.1:p.R2467fs

Associated Papers

A Novel Homozygous Variant in CPLANE1 Gene in a Patient with Developmental Deficits.

Shankarappa B et al.

Molecular Syndromology, 2025

Clinical and Imaging Profile of Patients with Joubert Syndrome.

Surisetti BK et al.

Journal of Movement Disorders, 2021

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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."