Varaico: Literature-Extracted Genetic Variants

Gene:TBX19
Variant:p.R100C
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TBX19

NM_005149.3:p.R100C

Associated Papers

A novel TBX19 gene mutation in patients with isolated ACTH deficiency from distinct families with a common geographical origin.

Charnay T et al.

Frontiers in Endocrinology, 2022

[Analysis of TBX19 gene variant in a child with congenital isolated adrenocorticotropic hormone deficiency].

Wu S et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 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."