Varaico: Literature-Extracted Genetic Variants

Gene:AMH
Variant:p.Q325R
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AMH

NM_000479.5:p.Q325R

Associated Papers

A divergent two-domain structure of the anti-Müllerian hormone prodomain.

Howard JA et al.

Proceedings of the National Academy of Sciences of the United States of America, 2025

Whole-Exome Sequencing Revealed New Candidate Genes for Human Dilated Cardiomyopathy.

D'Agostino Y et al.

Diagnostics (basel, Switzerland), 2022

36292100 (PubMed )
Supplement: diagnostics-12-02411-s001.zip › Supplementary_table_S3.xlsx › Foglio1

Genetics of agenesis/hypoplasia of the uterus and vagina: narrowing down the number of candidate genes for Mayer-Rokitansky-Küster-Hauser Syndrome.

Mikhael S et al.

Human Genetics, 2021

Acquired mutations and transcriptional remodeling in long-term estrogen-deprived locoregional breast cancer recurrences.

Priedigkeit N et al.

Breast Cancer Research : Bcr, 2021

33407744 (PubMed )
Supplement: 13058_2020_1379_MOESM2_ESM.xlsx › S4

Functional Genetic Variation in the Anti-Müllerian Hormone Pathway in Women With Polycystic Ovary Syndrome.

Gorsic LK et al.

The Journal of Clinical Endocrinology and Metabolism, 2019

An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.

Famiglietti ML et al.

Database : the Journal of Biological Databases and Curation, 2019

30937429 (PubMed )
Supplement: famiglietti_supplementarytables1_rev_baz040.xlsx › common

Pathogenic Anti-Müllerian Hormone Variants in Polycystic Ovary Syndrome.

Gorsic LK et al.

The Journal of Clinical Endocrinology and Metabolism, 2017

AMH mutations with reduced in vitro bioactivity are related to premature ovarian insufficiency.

Alvaro Mercadal B et al.

Human Reproduction (oxford, England), 2015

Three novel AMH gene mutations in a patient with persistent mullerian duct syndrome and normal AMH serum dosage.

Menabò S et al.

Hormone Research, 2008

[Molecular biology of the persistent Müllerian duct syndrome].

Imbeaud S et al.

Contraception, Fertilite, Sexualite (1992), 1996

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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."