Genes, Vol. 10, Pages 792: NGS Analysis for Molecular Diagnosis of Retinitis Pigmentosa (RP): Detection of a Novel Variant in PRPH2 Gene

In conclusion, PRPH2_c.668T > A provided a molecular explanation of RP symptomatology, highlighting the clinical utility of NGS panels to facilitate genotype–phenotype correlations.

Source: Genes - October 11, 2019 Category: Genetics & Stem Cells Authors: Claudia Strafella Valerio Caputo Giulia Pagliaroli Nicola Iozzo Giulia Campoli Stefania Carboni Cristina Peconi Rosaria Maria Galota Stefania Zampatti Giulietta Minozzi Giuseppe Novelli Emiliano Giardina Raffaella Cascella Tags: Article Source Type: research