Varaico: Literature-Extracted Genetic Variants

Gene:TBX19
Variant:p.R69W
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TBX19

NM_005149.3:p.R69W

Associated Papers

Long-Term Follow-up of a Case with TBX19 Mutation, a Rare Cause of Isolated ACTH Deficiency and Literature Review.

Ceran A et al.

Journal of Clinical Research in Pediatric Endocrinology, 2025

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

A Case of Congenital Isolated Adrenocorticotropic Hormone Deficiency Caused by Two Novel Mutations in the TBX19 Gene.

Weijing K et al.

Frontiers in Endocrinology, 2019

A Rare Cause of Adrenal Insufficiency - Isolated ACTH Deficiency Due to TBX19 Mutation: Long-Term Follow-Up of Two Cases and Review of the Literature.

Kardelen Al AD et al.

Hormone Research in Paediatrics, 2019

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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."