Varaico: Literature-Extracted Genetic Variants

Gene:WNT4
Variant:p.A114V
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WNT4

NM_030761.5:p.A114V

Associated Papers

WNT4 deficiency impacts heart, diaphragm, and palate development: Insights from human genetics, machine learning, and mouse models.

Hernández-García A et al.

Developmental Biology, 2026

Advances in monogenic female infertility.

Gu H et al.

Journal of Genetics and Genomics = Yi Chuan Xue Bao, 2025

PhenoVar: a phenotype-driven approach in clinical genomics for the diagnosis of polymalformative syndromes.

Trakadis YJ et al.

Bmc Medical Genomics, 2014

Gene mutations associated with anomalies of human gonad formation.

Bashamboo A et al.

Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation, 2013

SERKAL syndrome: an autosomal-recessive disorder caused by a loss-of-function mutation in WNT4.

Mandel H et al.

American Journal of Human Genetics, 2008

WNT4 and sex development.

Biason-Lauber A et al.

Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation, 2008

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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."