Varaico: Literature-Extracted Genetic Variants

Gene:TNXB
Variant:p.R483P
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TNXB

NM_032470.4:p.R483P

Associated Papers

Congenital Adrenal Hyperplasia (CAH) due to 21-Hydroxylase Deficiency: A Comprehensive Focus on 233 Pathogenic Variants of CYP21A2 Gene.

Concolino P et al.

Molecular Diagnosis & Therapy, 2018

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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."