Varaico: Literature-Extracted Genetic Variants

Gene:TEDC1
Variant:p.A263delFs
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TEDC1

NM_001134877.1:p.A263delFs

Associated Papers

Biallelic TEDC1 variants cause a new syndrome with severe growth impairment and endocrine complications.

Miyake N et al.

European Journal of Human Genetics : Ejhg, 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."