Varaico: Literature-Extracted Genetic Variants

Gene:NOP53
Variant:p.K219T
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NOP53

NM_015710.5:p.K219T

Associated Papers

Multiple transcripts of the CYP21 gene are generated by the mutation of the splicing donor site in intron 2 from GT to AT in 21-hydroxylase deficiency.

Lee HH et al.

The Journal of Endocrinology, 2001

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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."