Varaico: Literature-Extracted Genetic Variants

Gene:AMH
Variant:p.S49I
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AMH

NM_000479.5:p.S49I

Associated Papers

Descriptive overview of gene variants potentially affecting female infertility treatments: A systematic review.

Martinez-Martinez A et al.

Biomedicine & Pharmacotherapy = Biomedecine & Pharmacotherapie, 2026

Expanding the prostate cancer cell line repertoire with ACRJ-PC28, an AR-negative neuroendocrine cell line derived from an African-Caribbean patient.

Valentine H et al.

Cancer Research Communications, 2022

36643868 (PubMed )
Supplement: crc-22-0245-s07.xlsx › Variants_All_Exonic.exclude_ncR

Association of AMH and AMHR2 gene polymorphisms with ovarian response and pregnancy outcomes in Indian women.

Colaco S et al.

Journal of Assisted Reproduction and Genetics, 2022

Genetic and histopathological analysis of transverse testicular ectopia without persistent Müllerian duct syndrome: two case reports.

Nagai T et al.

Journal of Medical Case Reports, 2020

Association of two single nucleotide polymorphisms rs10407022 and rs3741664 with the risk of primary ovarian insufficiency in a sample of Iraqi women.

Rafaa TA et al.

Molecular Biology Research Communications, 2020

Trans-ancestry meta-analyses identify rare and common variants associated with blood pressure and hypertension.

Surendran P et al.

Nature Genetics, 2016

27618447 (PubMed )
Supplement: NIHMS69533-supplement-Supplementary_Tables.xlsx › Supplementary_Table_05

Ovarian hyperstimulation syndrome after gonadotropin-releasing hormone agonist triggering and "freeze-all": in-depth analysis of genetic predisposition.

Santos-Ribeiro S et al.

Journal of Assisted Reproduction and Genetics, 2015

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

Alvaro Mercadal B et al.

Human Reproduction (oxford, England), 2015

Analysis of anti-Müllerian hormone (AMH) and its receptor (AMHR2) genes in patients with persistent Müllerian duct syndrome.

Nishi MY et al.

Arquivos Brasileiros De Endocrinologia E Metabologia, 2012

Genetic polymorphisms influence the ovarian response to rFSH stimulation in patients undergoing in vitro fertilization programs with ICSI.

Boudjenah R et al.

Plos One, 2012

AMH gene mutations in two Egyptian families with persistent müllerian duct syndrome.

Mazen I et al.

Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation, 2011

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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."