Varaico: Literature-Extracted Genetic Variants

Gene:FOXL2
Variant:p.H312fs
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FOXL2

NM_023067.4:p.H312fs

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

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

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."