Varaico: Literature-Extracted Genetic Variants

Gene:EPHA2
Variant:p.S330F
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EPHA2

NM_004431.5:p.S330F

Associated Papers

Identification of novel mutations causing pediatric cataract in Bhutan, Cambodia, and Sri Lanka.

Javadiyan S et al.

Molecular Genetics & Genomic Medicine, 2018

Germ-line and somatic EPHA2 coding variants in lens aging and cataract.

Bennett TM et al.

Plos One, 2017

29267365 (PubMed )
Supplement: pone.0189881.s005.xlsx › S5a._Cat__1__all

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."