Varaico: Literature-Extracted Genetic Variants

Gene:TRAPPC2
Variant:p.S73fs
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TRAPPC2

NM_001011658.4:p.S73fs

Associated Papers

A novel deletion variant in TRAPPC2 causes spondyloepiphyseal dysplasia tarda in a five-generation Chinese family.

Zhang C et al.

Bmc Medical Genetics, 2020

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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."