Varaico: Literature-Extracted Genetic Variants

Gene:SRSF5
Variant:p.R214Q
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SRSF5

NM_001320214.2:p.R214Q

Associated Papers

Allelic Dropout Is a Common Phenomenon That Reduces the Diagnostic Yield of PCR-Based Sequencing of Targeted Gene Panels.

Shestak AG et al.

Frontiers in Genetics, 2021

Spectrum and prevalence of mutations involving BrS1- through BrS12-susceptibility genes in a cohort of unrelated patients referred for Brugada syndrome genetic testing: implications for genetic testing.

Crotti L et al.

Journal of the American College of Cardiology, 2012

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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."