Varaico: Literature-Extracted Genetic Variants

Gene:AMH
Variant:p.V527L
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AMH

NM_000479.5:p.V527L

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

Pathological variants in genes associated with disorders of sex development and central causes of hypogonadism in a whole-genome reference panel of 8380 Japanese individuals.

Shiga N et al.

Human Genome Variation, 2022

36171209 (PubMed )
Supplement: 41439_2022_213_MOESM2_ESM.xlsx › Supplementary_Table_2

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

Two heterozygous mutations of the AMH gene in a Japanese patient with persistent Müllerian duct syndrome.

Morikawa S et al.

Journal of Pediatric Endocrinology & Metabolism : Jpem, 2014

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."