Varaico: Literature-Extracted Genetic Variants

Gene:TBX19
Variant:p.R222fs
Back to variants list

TBX19

NM_005149.3:p.R222fs

Associated Papers

Evaluation of growth and puberty in a child with a novel TBX19 gene mutation and review of the literature.

Abali ZY et al.

Hormones (athens, Greece), 2019

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

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."