Varaico: Literature-Extracted Genetic Variants

Gene:DR1
Variant:p.K128_A129Splc
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DR1

NM_001938.3:p.K128_A129Splc

Associated Papers

The gene founder effect of two spontaneous mutations in ethnic Chinese (Taiwanese) CAH patients with 21-hydroxylase deficiency.

Lee YJ et al.

Molecular Genetics and Metabolism, 2009

Low frequency of the CYP21A2 deletion in ethnic Chinese (Taiwanese) patients with 21-hydroxylase deficiency.

Lee HH et al.

Molecular Genetics and Metabolism, 2008

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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."