Varaico: Literature-Extracted Genetic Variants

Gene:BMP15
Variant:p.R206H
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BMP15

NM_005448.2:p.R206H

Associated Papers

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

Hervé B et al.

Reproductive Sciences (thousand Oaks, Calif.), 2025

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

Afkhami F et al.

Reproductive Biology and Endocrinology : Rb&e, 2022

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

Integral role of GDF-9 and BMP-15 in ovarian function.

Otsuka F et al.

Molecular Reproduction and Development, 2011

Genes involved in human premature ovarian failure.

Persani L et al.

Journal of Molecular Endocrinology, 2010

Impaired production of BMP-15 and GDF-9 mature proteins derived from proproteins WITH mutations in the proregion.

Inagaki K et al.

Molecular and Cellular Endocrinology, 2010

Two distinct regions of latency-associated peptide coordinate stability of the latent transforming growth factor-beta1 complex.

Walton KL et al.

The Journal of Biological Chemistry, 2010

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

Dixit H et al.

Human Genetics, 2006

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."