Varaico: Literature-Extracted Genetic Variants

Gene:TNXB
Variant:p.R356C
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TNXB

NM_001365276.2:p.R356C

Associated Papers

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

Mahmoud RAA et al.

Journal of Endocrinological Investigation, 2022

Ehlers-Danlos Syndrome: Molecular and Clinical Characterization of TNXA/TNXB Chimeras in Congenital Adrenal Hyperplasia.

Marino R et al.

The Journal of Clinical Endocrinology and Metabolism, 2021

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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."