Varaico: Literature-Extracted Genetic Variants

Gene:AMH
Variant:p.L70P
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AMH

NM_000479.5:p.L70P

Associated Papers

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

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

A novel mutation of anti-Mullerian hormone gene in Persistent Mullerian Duct Syndrome presented with bilateral cryptorchidism: a case report.

Wongprasert H et al.

Journal of Pediatric Urology, 2013

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 novel AMH missense mutation in a patient with persistent Müllerian duct syndrome.

van der Zwan YG et al.

Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation, 2012

[Genetics and molecular pathology of anti-Mullerian hormone and its receptor].

Picard JY et al.

Journal De La Societe De Biologie, 2002

[Molecular biology of the persistent Müllerian duct syndrome].

Imbeaud S et al.

Contraception, Fertilite, Sexualite (1992), 1996

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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