Varaico: Literature-Extracted Genetic Variants

Gene:AMH
Variant:p.R302Q
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AMH

NM_000479.5:p.R302Q

Associated Papers

A divergent two-domain structure of the anti-Müllerian hormone prodomain.

Howard JA et al.

Proceedings of the National Academy of Sciences of the United States of America, 2025

Clinical and genetic characteristics of a large international cohort of individuals with rare NR5A1/SF-1 variants of sex development.

Kouri C et al.

Ebiomedicine, 2024

38168586 (PubMed )
Supplement: mmc1.pdf

Persistent Müllerian duct syndrome in an assisted reproductive patient: a novel variant impairs the biosynthesis and secretion of anti-Müllerian hormone (AMH).

Du Q et al.

Asian Journal of Andrology, 2023

Functional Genetic Variation in the Anti-Müllerian Hormone Pathway in Women With Polycystic Ovary Syndrome.

Gorsic LK et al.

The Journal of Clinical Endocrinology and Metabolism, 2019

Next generation sequencing (NGS) to improve the diagnosis and management of patients with disorders of sex development (DSD).

Hughes LA et al.

Endocrine Connections, 2019

Pathogenic Anti-Müllerian Hormone Variants in Polycystic Ovary Syndrome.

Gorsic LK et al.

The Journal of Clinical Endocrinology and Metabolism, 2017

The Persistent Müllerian Duct Syndrome: An Update Based Upon a Personal Experience of 157 Cases.

Picard JY et al.

Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation, 2017

Analysis of anti-Müllerian hormone (AMH) and its receptor (AMHR2) genes in patients with persistent Müllerian duct syndrome.

Nishi MY et al.

Arquivos Brasileiros De Endocrinologia E Metabologia, 2012

[Genetics and molecular pathology of anti-Mullerian hormone and its receptor].

Picard JY et al.

Journal De La Societe De Biologie, 2002

AMH and AMH receptor defects in persistent Müllerian duct syndrome.

Josso N et al.

Human Reproduction Update, 0

Surgical management and molecular diagnosis of persistent Müllerian duct syndrome in Chinese patients.

Tian HJ et al.

Asian Journal of Andrology, 0

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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."