Varaico: Literature-Extracted Genetic Variants

Gene:LRAT
Variant:p.S205fs
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LRAT

NM_004744.5:p.S205fs

Associated Papers

Comprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next generation sequencing.

Wang X et al.

Journal of Medical Genetics, 2013

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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."