Varaico: Literature-Extracted Genetic Variants

Gene:TRAPPC2
Variant:p.K136*
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TRAPPC2

NM_001011658.4:p.K136*

Associated Papers

A Novel Premature Termination Codon Mutation in TRAPPC2 Is Associated with X-Linked Spondyloepiphyseal Dysplasia Tarda.

Yasar D et al.

Molecular Syndromology, 2025

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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."