Varaico: Literature-Extracted Genetic Variants

Gene:TBX19
Variant:p.P126L
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TBX19

NM_005149.3:p.P126L

Associated Papers

Functional study of three cases with novel TBX19 variants.

Lei N et al.

Endocrine, 2025

Global Adrenal Insufficiency in Two Independent Patients Carrying the Same Homozygous c.172A&gt;G, p.(Thr58Ala) Mutation in the <italic>TBX19</italic> Gene.

Holterhus PM et al.

Hormone Research in Paediatrics, 2025

Congenital isolated adrenocorticotropic hormone deficiency in a newborn caused by TBX19 mutation: a case report and literature review.

Dang Y et al.

Frontiers in Pediatrics, 2024

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

Congenital Isolated ACTH Deficiency Caused by TBX19 Gene Mutation: A Family Report.

Peng C et al.

Frontiers in Pediatrics, 2019

Gene symbol: TBX19. Disease: ACTH deficiency, isolated?

Mueller OT et al.

Human Genetics, 2008

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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."