Varaico: Literature-Extracted Genetic Variants

Gene:C4A
Variant:p.E920_F921insT
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C4A

NM_007293.3:p.E920_F921insT

Associated Papers

Genotypic spectrum of 21-hydroxylase deficiency in an endogamous population.

Mahmoud RAA et al.

Journal of Endocrinological Investigation, 2022

A rational, non-radioactive strategy for the molecular diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency.

Coeli-Lacchini FB et al.

Gene, 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."