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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TRAPPC2

Variant:p.K31_D32Splc

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TRAPPC2

NM_001011658.4:p.K31_D32Splc

hg38:chrX:13719866 C>A

Associated Papers

A novel splicing mutation in the SEDL gene causes spondyloepiphyseal dysplasia tarda in a large Chinese pedigree.

Wang H et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2013

23876379 (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."