Varaico: Literature-Extracted Genetic Variants

Gene:TMCO1
Variant:p.R63*
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TMCO1

NM_019026.6:p.R63*

Associated Papers

Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome-1 in two new patients with the same homozygous TMCO1 variant and review of the literature.

Abdelrazek IM et al.

European Journal of Medical 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."