Varaico: Literature-Extracted Genetic Variants

Gene:ZNRF3
Variant:p.R768G
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ZNRF3

NM_001206998.2:p.R768G

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

Monogenic Forms of DSD: An Update.

McElreavey K et al.

Hormone Research in Paediatrics, 2023

ZNRF3 functions in mammalian sex determination by inhibiting canonical WNT signaling.

Harris A et al.

Proceedings of the National Academy of Sciences of the United States of America, 2018

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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."