Varaico: Literature-Extracted Genetic Variants

Gene:GK
Variant:p.A87Splc
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GK

NM_001205019.2:p.A87Splc

Associated Papers

Vitamin D dependent rickets type I.

Kim CJ

Korean Journal of Pediatrics, 2011

Asymptomatic isolated human glycerol kinase deficiency associated with splice-site mutations and nonsense-mediated decay of mutant RNA.

Zhang YH et al.

Pediatric Research, 2006

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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."