Varaico: Literature-Extracted Genetic Variants

Gene:ZNRF3
Variant:p.P310L
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ZNRF3

NM_001206998.2:p.P310L

Associated Papers

Deleterious ZNRF3 germline variants cause neurodevelopmental disorders with mirror brain phenotypes via domain-specific effects on Wnt/β-catenin signaling.

Boonsawat P et al.

American Journal of Human Genetics, 2024

Human myelomeningocele risk and ultra-rare deleterious variants in genes associated with cilium, WNT-signaling, ECM, cytoskeleton and cell migration.

Au KS et al.

Scientific Reports, 2021

33574475 (PubMed )
Supplement: 41598_2021_83058_MOESM1_ESM.xlsx › Supplementary_Table_3
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