Varaico: Literature-Extracted Genetic Variants

Gene:TNXB
Variant:p.P454S
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TNXB

NM_032470.4:p.P454S

Associated Papers

Genetic Characterization of a Cohort of Italian Patients with Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency.

Concolino P et al.

Molecular Diagnosis & Therapy, 2023

Development of CYP21A2 Genotyping Assay for the Diagnosis of Congenital Adrenal Hyperplasia.

Prado MJ et al.

Molecular Diagnosis & Therapy, 2017

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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."