Varaico: Literature-Extracted Genetic Variants

Gene:AMH
Variant:p.H506Q
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AMH

NM_000479.5:p.H506Q

Associated Papers

POLYCYSTIC OVARY SYNDROME: ORIGINS AND IMPLICATIONS: Genetics of polycystic ovary syndrome (PCOS).

Louwers YV et al.

Reproduction (cambridge, England), 2025

Functional analysis of rare anti-Müllerian hormone protein-altering variants identified in women with PCOS.

Meng L et al.

Molecular Human Reproduction, 2023

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

Structure of AMH bound to AMHR2 provides insight into a unique signaling pair in the TGF-β family.

Hart KN et al.

Proceedings of the National Academy of Sciences of the United States of America, 2021

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

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

Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort.

Eggers S et al.

Genome Biology, 2016

27899157 (PubMed )
Supplement: 13059_2016_1105_MOESM1_ESM.xlsx › Sheet2

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."