Varaico: Literature-Extracted Genetic Variants

Gene:AMHR2
Variant:p.R471H
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AMHR2

NM_020547.3:p.R471H

Associated Papers

Disorders of Sex Development in a Large Ukrainian Cohort: Clinical Diversity and Genetic Findings.

Globa E et al.

Frontiers in Endocrinology, 2022

Atypical Clinical Presentation of Persistent Müllerian Duct Syndrome in Siblings.

Globa E et al.

Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation, 2020

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

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."