Pathogenicity of new BEST1 variants identified in Italian patients with best vitelliform macular dystrophy assessed by computational structural biology.

Vladimir FrecerGiancarlo IarossiAnna Paola SalvettiPaolo Enrico MalteseGiulia DelledonneMarta OldaniGiovanni StaurenghiBenedetto FalsiniAngelo Maria MinnellaLucia ZiccardiAdriano MagliLeonardo ColomboFabiana D'EspositoJan MiertusFrancesco ViolaMarcella AttanasioEmilia MaggioMatteo Bertelli

Published in: Journal of translational medicine (2019)

Using this computational approach, we designed a method for estimating BCVA progression in patients with BEST1 variants.

Keyphrases

copy number
early onset
diabetic retinopathy
biofilm formation
escherichia coli
pseudomonas aeruginosa
genome wide