Varaico: Literature-Extracted Genetic Variants

Gene:AIPL1
Variant:p.P354R
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AIPL1

NM_014336.5:p.P354R

Associated Papers

Panel-based genetic diagnostic testing for inherited eye diseases is highly accurate and reproducible, and more sensitive for variant detection, than exome sequencing.

Consugar MB et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2015

25412400 (PubMed )
Supplement: NIHMS639026-supplement-Supplementary_Material_-_Main_File.pdf
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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."