NMNAT1 early-onset retinal dystrophy (EORD) caused by a novel 5'UTR splice donor variant

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Updated: Oct 31, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
09:34

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

Paula C Morales1, Cesar Estrada-Puente1, Rachel D'Cunha1

  • 1Department of Ophthalmology, Duke University School of Medicine, Durham, North Carolina, USA.

Ophthalmic Genetics
|October 30, 2026
PubMed
Abstract

Keywords:
EORDIRDLCANMNAT1WGS

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