Varaico: Literature-Extracted Genetic Variants

Gene:FOXL2
Variant:p.L77P
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FOXL2

NM_023067.4:p.L77P

Associated Papers

The Genetics and Biology of FOXL2.

Tucker EJ

Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation, 2022

Screening of a large cohort of blepharophimosis, ptosis, and epicanthus inversus syndrome patients reveals a very strong paternal inheritance bias and a wide spectrum of novel FOXL2 mutations.

Bunyan DJ et al.

European Journal of Medical Genetics, 2019

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."