Varaico: Literature-Extracted Genetic Variants

Gene:PRICKLE2
Variant:p.L547M
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PRICKLE2

NM_198859.4:p.L547M

Associated Papers

Genetic determinants of global developmental delay and intellectual disability in Ukrainian children.

Shchubelka K et al.

Journal of Neurodevelopmental Disorders, 2024

38539105 (PubMed )
Supplement: 11689_2024_9528_MOESM2_ESM.xlsx › Undiagnosed

RAF1 deficiency causes a lethal syndrome that underscores RTK signaling during embryogenesis.

Wong S et al.

Embo Molecular Medicine, 2023

37066513 (PubMed )
Supplement: EMMM-15-e17078-s005.xlsx › Hets
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