Varaico: Literature-Extracted Genetic Variants

Gene:PRKD1
Variant:p.R740Q
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PRKD1

NM_002742.3:p.R740Q

Associated Papers

Biallelic LGI1 and ADAM23 variants cause hippocampal epileptic encephalopathy via the LGI1-ADAM22/23 pathway.

Hirano Y et al.

Brain : a Journal of Neurology, 2025

40455867 (PubMed )
Supplement: awaf202_supplementary_data.pdf

Diagnostic yield after next-generation sequencing in pediatric cardiovascular disease.

Slavotinek AM et al.

Hgg Advances, 2024

38521975 (PubMed )
Supplement: mmc2.xlsx › Supplementary_table_2

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
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