Varaico: Literature-Extracted Genetic Variants

Gene:TFE3
Variant:p.S257A
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TFE3

NM_006521.6:p.S257A

Associated Papers

A novel splice donor site mutation in EPHA2 caused congenital cataract in a Chinese family.

Bu J et al.

Indian Journal of Ophthalmology, 2016

27380975 (PubMed )
Supplement: IJO-64-364_Suppl2.pdf

Phosphorylation represses Ets-1 DNA binding by reinforcing autoinhibition.

Cowley DO et al.

Genes & Development, 2000

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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."