Varaico: Literature-Extracted Genetic Variants

Gene:NOP53
Variant:p.E276*
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NOP53

NM_015710.5:p.E276*

Associated Papers

Variants in the SOX9 transactivation middle domain induce axial skeleton dysplasia and scoliosis.

Wang L et al.

Proceedings of the National Academy of Sciences of the United States of America, 2025

Variants in the SOX9 transactivation middle domain induce axial skeleton dysplasia and scoliosis.

Wang L et al.

Medrxiv : the Preprint Server for Health Sciences, 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."