Varaico: Literature-Extracted Genetic Variants

Gene:LRAT
Variant:p.V50G
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LRAT

NM_004744.5:p.V50G

Associated Papers

Enhancing Molecular Diagnostic Accuracy in Genetic Eye Disorders Through a Personalized Re-Evaluation Strategy.

Martins PM et al.

Investigative Ophthalmology & Visual Science, 2026

Clinical and genetic landscape of IRD in Portugal: pooled data from the nationwide IRD-PT registry.

Marta A et al.

Npj Genomic Medicine, 2025

39939324 (PubMed )
Supplement: 41525_2025_475_MOESM1_ESM.xlsx › Families
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."