Varaico: Literature-Extracted Genetic Variants

Gene:BMP15
Variant:p.L263ins1
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BMP15

NM_005448.2:p.L263ins1

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

Understanding the Mechanisms of Diminished Ovarian Reserve: Insights from Genetic Variants and Regulatory Factors.

Zhu Q et al.

Reproductive Sciences (thousand Oaks, Calif.), 2024

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

Single nucleotide polymorphisms in premature ovarian failure-associated genes in a Chinese Hui population.

Ma L et al.

Molecular Medicine Reports, 2015

Gene variation and premature ovarian failure: a meta-analysis.

Pu D et al.

European Journal of Obstetrics, Gynecology, and Reproductive Biology, 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

BMP15 mutations associated with primary ovarian insufficiency cause a defective production of bioactive protein.

Rossetti R et al.

Human Mutation, 2009

Identification of new variants of human BMP15 gene in a large cohort of women with premature ovarian failure.

Di Pasquale E et al.

The Journal of Clinical Endocrinology and Metabolism, 2006

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

Dixit H et al.

Human Genetics, 2006

Mutations and sequence variants in GDF9 and BMP15 in patients with premature ovarian failure.

Laissue P et al.

European Journal of Endocrinology, 2006

BMP15 and GDF9 Gene Mutations in Premature Ovarian Failure.

Kumar R et al.

Journal of Reproduction & Infertility, 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."