Varaico: Literature-Extracted Genetic Variants

Gene:GDF9
Variant:p.T121I
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GDF9

NM_005260.7:p.T121I

Associated Papers

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

Jordan P et al.

Gene, 2024

Targeted Next-Generation Sequencing Indicates a Frequent Oligogenic Involvement in Primary Ovarian Insufficiency Onset.

Rossetti R et al.

Frontiers in Endocrinology, 2021

High-resolution array-CGH analysis on 46,XX patients affected by early onset primary ovarian insufficiency discloses new genes involved in ovarian function.

Bestetti I et al.

Human Reproduction (oxford, England), 2019

30689869 (PubMed )
Supplement: dey389_hr-18-1081.r1_supplementary_table_si.xlsx › SI_Clinical_data

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

Simpson CM et al.

The Journal of Clinical Endocrinology and Metabolism, 2014

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

An XP et al.

Animal Genetics, 2013

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."