Varaico: Literature-Extracted Genetic Variants

Gene:ETV6
Variant:p.H119R
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ETV6

NM_001987.5:p.H119R

Associated Papers

Structure-function analysis of human glucose-6-phosphatase, the enzyme deficient in glycogen storage disease type 1a.

Lei KJ et al.

The Journal of Biological Chemistry, 1995

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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."