Varaico: Literature-Extracted Genetic Variants

Gene:TRAPPC2
Variant:p.S2P
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TRAPPC2

NM_001011658.4:p.S2P

Associated Papers

Disrupted minor intron splicing is prevalent in Mendelian disorders.

Olthof AM et al.

Molecular Genetics & Genomic Medicine, 2020

32573973 (PubMed )
Supplement: MGG3-8-e1374-s004.xlsx › Sheet1
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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."