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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TMEM53

Variant:p.R235L

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TMEM53

NM_024587.4:p.R235L

hg38:chr1:44654689 C>A

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

41408477 (PubMed )

A novel missense pathogenic variants of TMEM53 in an Iranian family with craniotubular dysplasia, Ikegawa type.

Ren K et al.

Journal of Human Genetics, 2025

39901041 (PubMed )

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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."