Varaico: Literature-Extracted Genetic Variants

Gene:EPHA2
Variant:p.V904delFs
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EPHA2

NM_004431.5:p.V904delFs

Associated Papers

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

Zhang JJ et al.

International Journal of Ophthalmology, 2024

Biallelic Variants in EPHA2 Identified in Three Large Inbred Families with Early-Onset Cataract.

Jarwar P et al.

International Journal of Molecular Sciences, 2021

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."