Varaico: Literature-Extracted Genetic Variants

Gene:CEP152
Variant:p.E926V
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CEP152

NM_001194998.2:p.E926V

Associated Papers

Characterization of a Compound Heterozygous SLC2A9 Mutation That Causes Hypouricemia.

Yoon J et al.

Biomedicines, 2021

34572357 (PubMed )
Supplement: biomedicines-09-01172-s001.zip › biomedicines-1248799-supplementary.pdf

Identification of novel candidate pathogenic genes in pituitary stalk interruption syndrome by whole-exome sequencing.

Fang X et al.

Journal of Cellular and Molecular Medicine, 2020

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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."