Varaico: Literature-Extracted Genetic Variants

Gene:PRKD1
Variant:p.K88_F89Splc
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PRKD1

NM_002742.3:p.K88_F89Splc

Associated Papers

Brain calcification in congenital heart defects and ectodermal dysplasia (CHDED).

Watanabe D et al.

European Journal of Medical Genetics, 2025

Effect of deletion of the protein kinase PRKD1 on development of the mouse embryonic heart.

Waheed-Ullah Q et al.

Journal of Anatomy, 2024

38419169 (PubMed )
Supplement: JOA-245-70-s001.pdf

PRKD1-related telangiectasia-ectodermal dysplasia-brachydactyly-cardiac anomaly syndrome: Case report and review of the literature.

Leduc F et al.

European Journal of Medical Genetics, 2024

Novel Autosomal Recessive Splice-Altering Variant in PRKD1 Is Associated with Congenital Heart Disease.

Massadeh S et al.

Genes, 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."