Varaico: Literature-Extracted Genetic Variants

Gene:GDF9
Variant:p.K67Q
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GDF9

NM_005260.7:p.K67Q

Associated Papers

Revisiting GDF9 variants in primary ovarian insufficiency: A shift from dominant to recessive pathogenicity?

Jordan P et al.

Gene, 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

Genetic etiologic analysis in 74 Chinese Han women with idiopathic premature ovarian insufficiency by combined molecular genetic testing.

Shen J et al.

Journal of Assisted Reproduction and Genetics, 2021

Molecular genetics of infertility: loss-of-function mutations in humans and corresponding knockout/mutated mice.

Jiao SY et al.

Human Reproduction Update, 2021

Identification of the first homozygous 1-bp deletion in GDF9 gene leading to primary ovarian insufficiency by using targeted massively parallel sequencing.

França MM et al.

Clinical Genetics, 2018

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

Ma L et al.

Molecular Medicine Reports, 2015

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

Simpson CM et al.

The Journal of Clinical Endocrinology and Metabolism, 2014

G546A polymorphism of growth differentiation factor-9 contributes to the poor outcome of ovarian stimulation in women with diminished ovarian reserve.

Wang TT et al.

Fertility and Sterility, 2010

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

Growth differentiating factor-9 mutations may be associated with premature ovarian failure.

Kovanci E et al.

Fertility and Sterility, 2007

Novel variants in growth differentiation factor 9 in mothers of dizygotic twins.

Palmer JS 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

Mutational screening of the coding region of growth differentiation factor 9 gene in Indian women with ovarian failure.

Dixit H et al.

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