Varaico: Literature-Extracted Genetic Variants

Gene:BMP15
Variant:p.N103S
Back to variants list

BMP15

NM_005448.2:p.N103S

Associated Papers

From Dominant Assumptions to Recessive Trait: Rethinking BMP15 in Ovarian Dysfunction.

Hervé B et al.

Reproductive Sciences (thousand Oaks, Calif.), 2025

Identification of novel variants underlying non-syndromic primary ovarian insufficiency using a targeted NGS gene panel.

Veneziano C et al.

Frontiers in Endocrinology, 2025

41458559 (PubMed )
Supplement: Table4.xlsx › sheet1

Whole exome sequencing and machine learning germline analysis of individuals presenting with extreme phenotypes of high and low risk of developing tobacco-associated lung adenocarcinoma.

Patiño-García A et al.

Ebiomedicine, 2024

38484556 (PubMed )
Supplement: mmc1.xlsx › Supp_Table_2

Implication of Novel BMP15 and GDF9 Variants in Unexpected Poor Ovarian Response.

Mehdizadeh A et al.

Reproductive Sciences (thousand Oaks, Calif.), 2024

The landscape of genetic variations in non-syndromic primary ovarian insufficiency in the MENA region: a systematic review.

Allouch A et al.

Frontiers in Endocrinology, 2023

Novel bone morphogenetic protein 15 (BMP15) gene variants implicated in premature ovarian insufficiency.

Afkhami F et al.

Reproductive Biology and Endocrinology : Rb&e, 2022

Characterization of a novel mutation V136L in bone morphogenetic protein 15 identified in a woman affected by POI.

Ferrarini E et al.

Journal of Ovarian Research, 2021

CRISPR-mediated gene correction links the ATP7A M1311V mutations with amyotrophic lateral sclerosis pathogenesis in one individual.

Yun Y et al.

Communications Biology, 2020

31959876 (PubMed )
Supplement: 42003_2020_755_MOESM4_ESM.pdf

Association of BMP15 and GDF9 variants to premature ovarian insufficiency.

Santos M et al.

Journal of Assisted Reproduction and Genetics, 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

NR5A1 is a novel disease gene for 46,XX testicular and ovotesticular disorders of sex development.

Baetens D et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017

27490115 (PubMed )
Supplement: gim2016118x1.zip › 20160703_supplemental_data_FINAL_160706.docx

Mutation analysis of exon1 of bone morphogenetic protein-15 gene in Iranian patients with polycystic ovarian syndrome.

Mehdizadeh A et al.

International Journal of Reproductive Biomedicine, 2016

NOBOX is a strong autosomal candidate gene in Tunisian patients with primary ovarian insufficiency.

Bouali N et al.

Clinical Genetics, 2016

A novel FOXL2 gene mutation and BMP15 variants in a woman with primary ovarian insufficiency and blepharophimosis-ptosis-epicanthus inversus syndrome.

Settas N et al.

Menopause (new York, N.y.), 2015

A single nucleotide polymorphism of bone morphogenic protein-15 is not associated with ovarian reserve or response to ovarian stimulation.

Cerra C et al.

Human Reproduction (oxford, England), 2014

Mutational analysis of human bone morphogenetic protein 15 in Chinese women with polycystic ovary syndrome.

Liu J et al.

Metabolism: Clinical and Experimental, 2011

Genes involved in human premature ovarian failure.

Persani L et al.

Journal of Molecular Endocrinology, 2010

Variants of the BMP15 gene in a cohort of patients with premature ovarian failure.

Tiotiu D et al.

Human Reproduction (oxford, England), 2010

Multigenic combination of estrogen-related genes is associated with age at natural menopause in a Spanish population.

Mendoza N et al.

Menopause International, 2009

Variation in bone morphogenetic protein 15 is not associated with spontaneous human dizygotic twinning.

Zhao ZZ et al.

Human Reproduction (oxford, England), 2008

Association of genetic markers within the BMP15 gene with anovulation and infertility in women with polycystic ovary syndrome.

Gónzalez A et al.

Fertility and Sterility, 2008

Bone morphogenetic protein 15 (BMP15) alleles predict over-response to recombinant follicle stimulation hormone and iatrogenic ovarian hyperstimulation syndrome (OHSS).

Morón FJ et al.

Pharmacogenetics and Genomics, 2006

Missense mutations in the BMP15 gene are associated with ovarian failure.

Dixit H et al.

Human Genetics, 2006

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."