Varaico: Literature-Extracted Genetic Variants

Gene:AMHR2
Variant:p.G78Splc
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AMHR2

NM_020547.3:p.G78Splc

Associated Papers

Molecular Diagnosis of 46,XY Disorders of Sex Development: An Efficient Initial Molecular Analysis Using a Custom-Designed Targeted Gene Panel in a Single-Center Study.

Poyrazoglu S et al.

Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation, 2026

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

Unal E et al.

Journal of Endocrinological Investigation, 2021

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 Novel Mutation of AMHR2 in Two Siblings with Persistent Müllerian Duct Syndrome

Unal E et al.

Journal of Clinical Research in Pediatric Endocrinology, 2018

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."