Varaico: Literature-Extracted Genetic Variants

Gene:WNT4
Variant:p.L12P
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WNT4

NM_030761.5:p.L12P

Associated Papers

Advances in monogenic female infertility.

Gu H et al.

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

The Embryological Landscape of Mayer-Rokitansky-Kuster-Hauser Syndrome: Genetics and Environmental Factors.

Kyei-Barffour I et al.

The Yale Journal of Biology and Medicine, 2021

Primary Amenorrhea Due to Anatomical Abnormalities of the Reproductive Tract: Molecular Insight.

Kapczuk K et al.

International Journal of Molecular Sciences, 2021

Analysis of copy number variations of WNT4 gene in a Chinese population with Müllerian anomalies.

Zhu Y et al.

Orphanet Journal of Rare Diseases, 2021

Etiologies of uterine malformations.

Jacquinet A et al.

American Journal of Medical Genetics. Part A, 2016

Associations of Polymorphisms in WNT9B and PBX1 with Mayer-Rokitansky-Küster-Hauser Syndrome in Chinese Han.

Ma W et al.

Plos One, 2015

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

Mutation analysis of the WNT4 gene in Han Chinese women with premature ovarian failure.

Chen B et al.

Reproductive Biology and Endocrinology : Rb&e, 2011

Mayer-Rokitansky-Kuster-Hauser syndrome: recent clinical and genetic findings.

Sultan C et al.

Gynecological Endocrinology : the Official Journal of the International Society of Gynecological Endocrinology, 2009

Identification and functional analysis of a new WNT4 gene mutation among 28 adolescent girls with primary amenorrhea and müllerian duct abnormalities: a French collaborative study.

Philibert P et al.

The Journal of Clinical Endocrinology and Metabolism, 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."