Varaico: Literature-Extracted Genetic Variants

Gene:LRAT
Variant:p.R109L
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LRAT

NM_004744.5:p.R109L

Associated Papers

Long-Term Follow-Up of Retinal Degenerations Associated With LRAT Mutations and Their Comparability to Phenotypes Associated With RPE65 Mutations.

Talib M et al.

Translational Vision Science & Technology, 2019

Identity-by-descent-guided mutation analysis and exome sequencing in consanguineous families reveals unusual clinical and molecular findings in retinal dystrophy.

Coppieters F et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2014

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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."