Varaico: Literature-Extracted Genetic Variants

Gene:C4B
Variant:p.Q88_V89Splc
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C4B

NM_001002029.4:p.Q88_V89Splc

Associated Papers

Clinical presentation and mutational spectrum in a series of 166 patients with classical 21-hydroxylase deficiency from South China.

Su L et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2018

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."