Varaico: Literature-Extracted Genetic Variants

Gene:LRAT
Variant:p.P173delFs
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LRAT

NM_004744.5:p.P173delFs

Associated Papers

Frequency and Genetic Spectrum of Inherited Retinal Dystrophies in a Large Dutch Pediatric Cohort: The RD5000 Consortium.

Heutinck PAT et al.

Investigative Ophthalmology & Visual Science, 2024

39189993 (PubMed )
Supplement: iovs-65-10-40_s001.xlsx › Sheet1

Lecithin:Retinol Acyltransferase: A Key Enzyme Involved in the Retinoid (visual) Cycle.

Sears AE et al.

Biochemistry, 2016

High-resolution homozygosity mapping is a powerful tool to detect novel mutations causative of autosomal recessive RP in the Dutch population.

Collin RW et al.

Investigative Ophthalmology & Visual Science, 2011

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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."