Varaico: Literature-Extracted Genetic Variants

Gene:TRAPPC2
Variant:p.H137_L138del2
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TRAPPC2

NM_001011658.4:p.H137_L138del2

Associated Papers

The family reported to have X-linked Dyggve-Melchior-Clausen syndrome instead has X-linked SEDT caused by a novel TRAPPC2 frameshift variant.

Yunis JJ et al.

Clinical Genetics, 2023

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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."