Varaico: Literature-Extracted Genetic Variants

Gene:TRAPPC2
Variant:p.H80Splc
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TRAPPC2

NM_001011658.4:p.H80Splc

Associated Papers

RNA splicing analysis contributes to reclassifying variants of uncertain significance and improves the diagnosis of monogenic disorders.

He WB et al.

Journal of Medical Genetics, 2022

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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."