Varaico: Literature-Extracted Genetic Variants

Gene:PRKD1
Variant:p.L299*
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PRKD1

NM_002742.3:p.L299*

Associated Papers

Tetralogy of Fallot and craniosynostosis - differential manifestation in a familial case of CHDED syndrome caused by novel pathogenic PRKD1 variant.

Oza PS et al.

Journal of Human Genetics, 2025

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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."