Varaico: Literature-Extracted Genetic Variants

Gene:NIPBL
Variant:p.S18T
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NIPBL

NM_133433.4:p.S18T

Associated Papers

Application of whole exome sequencing in the diagnosis of muscular disorders: a study of Taiwanese pediatric patients.

Lee CL et al.

Frontiers in Genetics, 2024

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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."