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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TMEM53

Variant:p.E74_P75insFs

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TMEM53

NM_001300748.2:p.E74_P75insFs

hg38:chr1:44655078 C>CNNNN

Associated Papers

Deficiency of TMEM53 causes a previously unknown sclerosing bone disorder by dysregulation of BMP-SMAD signaling.

Guo L et al.

Nature Communications, 2021

33824347 (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."