Varaico: Literature-Extracted Genetic Variants

Gene:CPLANE1
Variant:p.L595*
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CPLANE1

NM_001384732.1:p.L595*

Associated Papers

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

Furuta Y et al.

Reports (mdpi), 2025

Generation of iPSC line from a Joubert syndrome patient with compound heterozygous mutations in CPLANE1 gene.

C M et al.

Stem Cell Research, 2024

Oral-facial-digital syndrome type VI: is C5orf42 really the major gene?

Romani M et al.

Human Genetics, 2015

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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."