Varaico: Literature-Extracted Genetic Variants

Gene:AMHR2
Variant:p.R406Q
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AMHR2

NM_020547.3:p.R406Q

Associated Papers

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

Natural mutations of the anti-Mullerian hormone type II receptor found in persistent Mullerian duct syndrome affect ligand binding, signal transduction and cellular transport.

Belville C et al.

Human Molecular Genetics, 2009

Anti-Müllerian hormone receptor defect.

di Clemente N et al.

Best Practice & Research. Clinical Endocrinology & Metabolism, 2006

Autosomal recessive segregation of a truncating mutation of anti-Müllerian type II receptor in a family affected by the persistent Müllerian duct syndrome contrasts with its dominant negative activity in vitro.

Messika-Zeitoun L et al.

The Journal of Clinical Endocrinology and Metabolism, 2001

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."