Varaico: Literature-Extracted Genetic Variants

Gene:NOP56
Variant:p.L3_F8insFs
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NOP56

NM_006392.4:p.L3_F8insFs

Associated Papers

Expanding the Natural History of SNORD118-Related Ribosomopathy: Hints from an Early-Diagnosed Patient with Leukoencephalopathy with Calcifications and Cysts and Overview of the Literature.

Politano D et al.

Genes, 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."