Varaico: Literature-Extracted Genetic Variants

Gene:TBX19
Variant:p.R222K
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TBX19

NM_005149.3:p.R222K

Associated Papers

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

A rare cause of neonatal hypoglycemia in two siblings: TBX19 gene mutation.

Unal E et al.

Hormones (athens, Greece), 2018

A Novel TBX19 Gene Mutation in a Case of Congenital Isolated Adrenocorticotropic Hormone Deficiency Presenting with Recurrent Respiratory Tract Infections.

Akcan N et al.

Frontiers in Endocrinology, 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."