Varaico: Literature-Extracted Genetic Variants

Gene:AMHR2
Variant:p.R504C
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AMHR2

NM_020547.3:p.R504C

Associated Papers

Structural basis for ALK2/BMPR2 receptor complex signaling through kinase domain oligomerization.

Agnew C et al.

Nature Communications, 2021

34400635 (PubMed )
Supplement: 41467_2021_25248_MOESM1_ESM.pdf

Identification of four novel variant in the AMHR2 gene in six unrelated Turkish families.

Unal E et al.

Journal of Endocrinological Investigation, 2021

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

A 27 base-pair deletion of the anti-müllerian type II receptor gene is the most common cause of the persistent müllerian duct syndrome.

Imbeaud S et al.

Human Molecular Genetics, 1996

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."