Varaico: Literature-Extracted Genetic Variants

Gene:FOXL2
Variant:p.I102T
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FOXL2

NM_023067.4:p.I102T

Associated Papers

Deleterious variants in genes regulating mammalian reproduction in Neanderthals, Denisovans and extant humans.

Greer C et al.

Human Reproduction (oxford, England), 2021

33417716 (PubMed )
Supplement: deaa347_supplementary_data.zip › Suppl_Table_SIV_DelTolVariants_MotherFather_1000GPhI.pdf

Mutational probing of the forkhead domain of the transcription factor FOXL2 provides insights into the pathogenicity of naturally occurring mutations.

Todeschini AL et al.

Human Molecular Genetics, 2011

Towards a functional classification of pathogenic FOXL2 mutations using transactivation reporter systems.

Dipietromaria A et al.

Human Molecular Genetics, 2009

The transcription factor FOXL2 in ovarian function and dysfunction.

De Baere E et al.

Folia Histochemica Et Cytobiologica, 2009

Missense mutations in the forkhead domain of FOXL2 lead to subcellular mislocalization, protein aggregation and impaired transactivation.

Beysen D et al.

Human Molecular Genetics, 2008

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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."