Varaico: Literature-Extracted Genetic Variants

Gene:BMP15
Variant:p.R138H
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BMP15

NM_005448.2:p.R138H

Associated Papers

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

Screening for causative mutations in ovine BMPR1B and BMP15 genes and their homologous fragments in human.

Zamani P et al.

Journal of Assisted Reproduction and Genetics, 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

BMP15 Mutations Associated With Primary Ovarian Insufficiency Reduce Expression, Activity, or Synergy With GDF9.

Patiño LC et al.

The Journal of Clinical Endocrinology and Metabolism, 2017

BMP15 c.-9C>G promoter sequence variant may contribute to the cause of non-syndromic premature ovarian failure.

Fonseca DJ et al.

Reproductive Biomedicine Online, 2014

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

BMP15 and premature ovarian failure: causal mutations, variants, polymorphisms?

Lakhal B et al.

Clinical Endocrinology, 2010

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

Rossetti R et al.

Human Mutation, 2009

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."