Varaico: Literature-Extracted Genetic Variants

Gene:AMH
Variant:p.R444H
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AMH

NM_000479.5:p.R444H

Associated Papers

Association of gene polymorphisms in the anti-Müllerian hormone signalling pathway with ovarian function: a systematic review and meta-analysis.

Cheng R et al.

Reproductive Biomedicine Online, 2019

Pathogenic Anti-Müllerian Hormone Variants in Polycystic Ovary Syndrome.

Gorsic LK et al.

The Journal of Clinical Endocrinology and Metabolism, 2017

iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Wang M et al.

Scientific Reports, 2016

27527004 (PubMed )
Supplement: srep31321-s3.xls › NovelVar

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

Alvaro Mercadal B et al.

Human Reproduction (oxford, England), 2015

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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."