Varaico: Literature-Extracted Genetic Variants

Gene:TBX19
Variant:p.E201_I202Splc
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TBX19

NM_005149.3:p.E201_I202Splc

Associated Papers

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

Whole exome sequencing diagnosis of inborn errors of metabolism and other disorders in United Arab Emirates.

Al-Shamsi A et al.

Orphanet Journal of Rare Diseases, 2016

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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."