Preliminary identification of pathogenic variants in an Afro-Colombian Raizal family with risk factors for glaucoma.

Harry Castillo-Plata Nelson Rivera Franco Claudia Valencia-Peña Wilmar Saldarriaga-GilLyle NewballAndrés Castillo

Published in: Colombia medica (Cali, Colombia) (2022)

It was possible to identify four non-synonymous single nucleotide variants that predict significant damage to the structure and function of genes associated with glaucoma pathology in an Afro-Colombian.

Keyphrases

copy number
optic nerve
oxidative stress
optical coherence tomography