Varaico: Literature-Extracted Genetic Variants

Gene:BMP15
Variant:p.R329C
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BMP15

NM_005448.2:p.R329C

Associated Papers

Exploring the functional and structural impacts of high-risk nsSNPs in human BMP15 and GDF9 genes associated with premature ovarian failure: an in silico approach.

Navapour L et al.

Journal of Biomolecular Structure & Dynamics, 2025

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

Hervé B et al.

Reproductive Sciences (thousand Oaks, Calif.), 2025

A Novel Homozygous BMP15 Mutation Causes Ovarian Dysgenesis and Primary Amenorrhea.

Cohen A et al.

Journal of the Endocrine Society, 2025

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

Zhu Q et al.

Reproductive Sciences (thousand Oaks, Calif.), 2024

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

Afkhami F et al.

Reproductive Biology and Endocrinology : Rb&e, 2022

Fundamental role of BMP15 in human ovarian folliculogenesis revealed by null and missense mutations associated with primary ovarian insufficiency.

Rossetti R et al.

Human Mutation, 2020

A novel homozygous mutation of bone morphogenetic protein 15 identified in a consanguineous marriage family with primary ovarian insufficiency.

Zhang W et al.

Reproductive Biomedicine Online, 2018

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

Ma L et al.

Molecular Medicine Reports, 2015

Genes involved in human premature ovarian failure.

Persani L et al.

Journal of Molecular Endocrinology, 2010

Genetics of primary ovarian insufficiency: new developments and opportunities.

Qin Y et al.

Human Reproduction Update, 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."