Varaico: Literature-Extracted Genetic Variants

Gene:ZNRF3
Variant:p.P103A
Back to variants list

ZNRF3

NM_001206998.2:p.P103A

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

Single-Exon Deletions of ZNRF3 Exon 2 Cause Congenital Adrenal Hypoplasia.

Amano N et al.

The Journal of Clinical Endocrinology and Metabolism, 2024

Structural and molecular basis of ZNRF3/RNF43 transmembrane ubiquitin ligase inhibition by the Wnt agonist R-spondin.

Zebisch M et al.

Nature Communications, 2013

24225776 (PubMed )
Supplement: ncomms3787-s1.pdf
Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."