Varaico: Literature-Extracted Genetic Variants

Gene:AMHR2
Variant:p.I209N
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AMHR2

NM_020547.3:p.I209N

Associated Papers

Epidemiology, Genetic Etiology, and Intervention of Premature Ovarian Insufficiency.

Guo T et al.

Endocrine Reviews, 2025

Post-Translational Modifications in Mammalian Folliculogenesis and Ovarian Pathologies.

Chen D et al.

Cells, 2025

Genetic insights into the complexity of premature ovarian insufficiency.

Nie L et al.

Reproductive Biology and Endocrinology : Rb&e, 2024

Whole-exome sequencing reveals new potential genes and variants in patients with premature ovarian insufficiency.

Turkyilmaz A et al.

Journal of Assisted Reproduction and Genetics, 2022

A Novel Homozygous AMRH2 Gene Mutation in a Patient with Persistent Müllerian Duct Syndrome.

Fernández-Cancio M et al.

Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation, 2019

A dominant negative mutation at the ATP binding domain of AMHR2 is associated with a defective anti-Müllerian hormone signaling pathway.

Li L et al.

Molecular Human Reproduction, 2016

AMH and AMHR2 genetic variants in Chinese women with primary ovarian insufficiency and normal age at natural menopause.

Qin C et al.

Reproductive Biomedicine Online, 2014

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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."