Related Experiment Video

Updated: Jan 5, 2026

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
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Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation

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Leber congenital amaurosis: Current genetic basis, scope for genetic testing and personalized medicine

Altaf A Kondkar1, Khaled K Abu-Amero1

  • 1Department of Ophthalmology, Glaucoma Research Chair, College of Medicine, King Saud University, Riyadh, Saudi Arabia.

Experimental Eye Research
|October 23, 2019
PubMed

Keywords:
Genetic-testingGeneticsInherited retinal dystrophiesLeber congenital amaurosis (LCA)Next-generation sequencingPharmacogenetic medicineRetinal degenerative disease

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