Varaico: Literature-Extracted Genetic Variants

Gene:DIPK2B
Variant:p.S105P
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DIPK2B

NM_176819.4:p.S105P

Associated Papers

A t(5;16) translocation is the likely driver of a syndrome with ambiguous genitalia, facial dysmorphism, intellectual disability, and speech delay.

Ozantürk A et al.

Cold Spring Harbor Molecular Case Studies, 2016

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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."