Varaico: Literature-Extracted Genetic Variants

Gene:RYR2
Variant:p.P448R
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RYR2

NM_001035.3:p.P448R

Associated Papers

Founder mutations characterise the mutation panorama in 200 Swedish index cases referred for Long QT syndrome genetic testing.

Stattin EL et al.

Bmc Cardiovascular Disorders, 2012

23098067 (PubMed )
Supplement: 1471-2261-12-95-S2.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."