Varaico: Literature-Extracted Genetic Variants

Gene:H6PD
Variant:p.L598L
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H6PD

NM_004285.4:p.L598L

Associated Papers

Mutational analysis of ABCC8, KCNJ11, GLUD1, HNF4A and GCK genes in 30 Chinese patients with congenital hyperinsulinism.

Sang Y et al.

Endocrine Journal, 2014

[ABCC8, KCNJ11 and GLUD1 gene mutation analysis in congenital hyperinsulinism pedigree].

Xu ZD et al.

Zhonghua Yi Xue Za Zhi, 2013

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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."