Varaico: Literature-Extracted Genetic Variants

Gene:EPHA2
Variant:p.P975insFs
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EPHA2

NM_004431.5:p.P975insFs

Associated Papers

Abnormal function of EPHA2/p.R957P mutant in congenital cataract.

Zhang JJ et al.

International Journal of Ophthalmology, 2024

A Novel Human Congenital Cataract Mutation in EPHA2 Kinase Domain (p.G668D) Alters Receptor Stability and Function.

Zhai Y et al.

Investigative Ophthalmology & Visual Science, 2019

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

Bu J et al.

Indian Journal of Ophthalmology, 2016

Identification of a novel C-terminal extension mutation in EPHA2 in a family affected with congenital cataract.

Reis LM et al.

Molecular Vision, 2014

Cataract-related mutations in EphA2: a survey of literature data and the relevance of the receptor Sam domain.

Vincenzi M et al.

Expert Opinion on Therapeutic Targets, 0

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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."