Varaico: Literature-Extracted Genetic Variants

Gene:AMH
Variant:p.P352S
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AMH

NM_000479.5:p.P352S

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

Genetic determinants of global developmental delay and intellectual disability in Ukrainian children.

Shchubelka K et al.

Journal of Neurodevelopmental Disorders, 2024

38539105 (PubMed )
Supplement: 11689_2024_9528_MOESM2_ESM.xlsx › Diagnosed

Functional analysis of rare anti-Müllerian hormone protein-altering variants identified in women with PCOS.

Meng L et al.

Molecular Human Reproduction, 2023

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

Pathogenic Anti-Müllerian Hormone Variants in Polycystic Ovary Syndrome.

Gorsic LK et al.

The Journal of Clinical Endocrinology and Metabolism, 2017

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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."