Associated Papers
Suspected case of benign familial fleck retina with functional loss.
Constable PA et al.
Clinical Case Reports, 2023
MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.
Mort M et al.
Genome Biology, 2014
24451234 (PubMed )
Supplement: gb-2014-15-1-r19-S1.pdf
Biallelic mutations in PLA2G5, encoding group V phospholipase A2, cause benign fleck retina.
Sergouniotis PI et al.
American Journal of Human Genetics, 2011
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