Varaico: Literature-Extracted Genetic Variants

Gene:GDF9
Variant:p.R454C
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GDF9

NM_005260.7:p.R454C

Associated Papers

Whole-exome sequencing in children with dyslexia implicates rare variants in CLDN3 and ion channel genes.

Marianski K et al.

Human Genetics, 2025

41442065 (PubMed )
Supplement: 439_2025_2796_MOESM4_ESM.xlsx › ST2

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

Identification of novel variants underlying non-syndromic primary ovarian insufficiency using a targeted NGS gene panel.

Veneziano C et al.

Frontiers in Endocrinology, 2025

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

Jordan P et al.

Gene, 2024

Genetic regulation of ovulation rate and multiple births.

Montgomery GW

Reproduction, Fertility, and Development, 2024

Exome sequence analysis of rare frequency variants in Late-Onset Alzheimer Disease.

Sundarrajan S et al.

Metabolic Brain Disease, 2023

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

Meiotic Cohesin and Variants Associated With Human Reproductive Aging and Disease.

Beverley R et al.

Frontiers in Cell and Developmental Biology, 2021

Identification of Multiple Gene Mutations Accounts for a new Genetic Architecture of Primary Ovarian Insufficiency.

Bouilly J et al.

The Journal of Clinical Endocrinology and Metabolism, 2016

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

Simpson CM et al.

The Journal of Clinical Endocrinology and Metabolism, 2014

Integrated analysis of germline and somatic variants in ovarian cancer.

Kanchi KL et al.

Nature Communications, 2014

24448499 (PubMed )
Supplement: NIHMS551112-supplement-19.xlsx › S_Data_18

Polymorphism identification in goat GNRH1 and GDF9 genes and their association analysis with litter size.

An XP et al.

Animal Genetics, 2013

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

Otsuka F et al.

Molecular Reproduction and Development, 2011

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

Wang B et al.

Reproductive Biomedicine Online, 2010

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

Palmer JS et al.

The Journal of Clinical Endocrinology and Metabolism, 2006

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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."