Varaico: Literature-Extracted Genetic Variants

Gene:HOXD13
Variant:p.I224_L234ins3
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HOXD13

NM_000523.4:p.I224_L234ins3

Associated Papers

A novel polyalanine expansion in FOXL2: the first evidence for a recessive form of the blepharophimosis syndrome (BPES) associated with ovarian dysfunction.

Nallathambi J et al.

Human Genetics, 2007

A recurrent polyalanine expansion in the transcription factor FOXL2 induces extensive nuclear and cytoplasmic protein aggregation.

Caburet S et al.

Journal of Medical Genetics, 2004

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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."