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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TRAPPC2B

Variant:p.S110*

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TRAPPC2B

NM_001355204.2:p.S110*

hg38:chr19:57365162 C>A

Associated Papers

A novel nonsense mutation of the sedlin gene in a family with spondyloepiphyseal dysplasia tarda.

Shi YR et al.

Human Heredity, 2002

12446987 (PubMed )

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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."