Varaico: Literature-Extracted Genetic Variants

Gene:FOXL2
Variant:p.A253fs
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FOXL2

NM_023067.4:p.A253fs

Associated Papers

Mutation spectrum of fork-head transcriptional factor gene (FOXL2) in Indian Blepharophimosis Ptosis Epicanthus Inversus Syndrome (BPES) patients.

Kaur I et al.

The British Journal of Ophthalmology, 2011

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

Dipietromaria A et al.

Human Molecular Genetics, 2009

FOXL2: at the crossroads of female sex determination and ovarian function.

Benayoun BA et al.

Advances in Experimental Medicine and Biology, 2009

Differential functional effects of novel mutations of the transcription factor FOXL2 in BPES patients.

Nallathambi J et al.

Human Mutation, 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."