Varaico: Literature-Extracted Genetic Variants

Gene:PRICKLE2
Variant:p.V605F
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PRICKLE2

NM_198859.4:p.V605F

Associated Papers

Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases.

Bhérer C et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

40791678 (PubMed )
Supplement: media-2.xlsx › Table_S12_ClinVar_PLP_variants

Germline predisposition in multiple myeloma.

Martins Rodrigues F et al.

Iscience, 2025

39845416 (PubMed )
Supplement: mmc3.xlsx › ST2D.Vars_in_all_genes_MMRF

PRICKLE2 revisited-further evidence implicating PRICKLE2 in neurodevelopmental disorders.

Bayat A et al.

European Journal of Human Genetics : Ejhg, 2021

Response to Sandford et al.: PRICKLE2 Variants in Epilepsy: A Call for Precision Medicine.

Mahajan VB et al.

American Journal of Human Genetics, 2016

Mutations in prickle orthologs cause seizures in flies, mice, and humans.

Tao H et al.

American Journal of Human Genetics, 2011

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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."