Varaico: Literature-Extracted Genetic Variants

Gene:PSAP
Variant:p.M1_Y2insFs
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PSAP

NM_002778.4:p.M1_Y2insFs

Associated Papers

Evaluation of both exonic and intronic variants for effects on RNA splicing allows for accurate assessment of the effectiveness of precision therapies.

Joynt AT et al.

Plos Genetics, 2020

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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."