Varaico: Literature-Extracted Genetic Variants

Gene:SAGE1
Variant:p.L805S
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SAGE1

NM_001381902.1:p.L805S

Associated Papers

Myopia and Late-Onset Progressive Cone Dystrophy Associate to LVAVA/MVAVA Exon 3 Interchange Haplotypes of Opsin Genes on Chromosome X.

Orosz O et al.

Investigative Ophthalmology & Visual Science, 2017

XomAnnotate: Analysis of Heterogeneous and Complex Exome- A Step towards Translational Medicine.

Talukder AK et al.

Plos One, 2015

25905921 (PubMed )
Supplement: pone.0123569.s008.xls › BC8_ERR166330
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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."