Varaico: Literature-Extracted Genetic Variants

Gene:GDF9
Variant:p.R146C
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GDF9

NM_005260.7:p.R146C

Associated Papers

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

Zhu Q et al.

Reproductive Sciences (thousand Oaks, Calif.), 2024

Ovarian insufficiency and secondary amenorrhea in a patient with a novel variant within GDF9 gene.

Marinakis NM et al.

Menopause (new York, N.y.), 2022

Endometriosis-associated infertility: GDF-9, AMH, and AMHR2 genes polymorphisms.

De Conto E et al.

Journal of Assisted Reproduction and Genetics, 2017

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

Ma L et al.

Molecular Medicine Reports, 2015

Genetic associations with diminished ovarian reserve: a systematic review of the literature.

Greene AD et al.

Journal of Assisted Reproduction and Genetics, 2014

Aberrant GDF9 expression and activation are associated with common human ovarian disorders.

Simpson CM et al.

The Journal of Clinical Endocrinology and Metabolism, 2014

Identification of a mutation in GDF9 as a novel cause of diminished ovarian reserve in young women.

Wang TT et al.

Human Reproduction (oxford, England), 2013

Identification of novel missense mutations of GDF9 in Chinese women with polycystic ovary syndrome.

Wang B et al.

Reproductive Biomedicine Online, 2010

Analyses of GDF9 mutation in 100 Chinese women with premature ovarian failure.

Zhao H et al.

Fertility and Sterility, 2007

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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."