Associated Papers
Variability in Gene Expression is Associated with Incomplete Penetrance in Inherited Eye Disorders.
Green DJ et al.
Genes, 2020
32050448 (PubMed )
Supplement: genes-11-00179-s001.zip › Supplementary_File_3.xlsx › gnomAD_overlap_autosomal
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
Molecular Genetic Analysis of Pakistani Families With Autosomal Recessive Congenital Cataracts by Homozygosity Screening.
Chen J et al.
Investigative Ophthalmology & Visual Science, 2017
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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