Varaico: Literature-Extracted Genetic Variants

Gene:TMEM53
Variant:p.E212K
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TMEM53

NM_024587.4:p.E212K

Associated Papers

TMEM53 as an outer nuclear membrane regulator of cranial and tubular bone formation in craniotubular dysplasia.

Ren K et al.

Journal of Human Genetics, 2025

Novel TMEM53 missense variant generated a new ubiquitination site and cause Craniotubular dysplasia, Ikegawa type.

Peng Y et al.

Human Molecular Genetics, 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."