Varaico: Literature-Extracted Genetic Variants

Gene:TBX19
Variant:p.R100H
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TBX19

NM_005149.3:p.R100H

Associated Papers

Functional study of three cases with novel TBX19 variants.

Lei N et al.

Endocrine, 2025

A serious and unusual presentation of congenital isolated ACTH deficiency due to TBX19 mutation, beyond the neonatal period.

Vieira IH et al.

Endocrinology, Diabetes & Metabolism Case Reports, 2022

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

The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cao Y et al.

Cell Research, 2020

32355288 (PubMed )
Supplement: 41422_2020_322_MOESM14_ESM.xlsx › S7

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

Phenotypic homogeneity and genotypic variability in a large series of congenital isolated ACTH-deficiency patients with TPIT gene mutations.

Couture C et al.

The Journal of Clinical Endocrinology and Metabolism, 2012

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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."