Varaico: Literature-Extracted Genetic Variants

Gene:ARNT2
Variant:p.Q569H
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ARNT2

NM_014862.4:p.Q569H

Associated Papers

Exome sequencing in 16 patients with pituitary stalk interruption syndrome: A monocentric study.

Brauner R et al.

Plos One, 2023

Presentation and diagnosis of childhood-onset combined pituitary hormone deficiency: A single center experience from over 30 years.

Hietamäki J et al.

Eclinicalmedicine, 2022

Clues for Polygenic Inheritance of Pituitary Stalk Interruption Syndrome From Exome Sequencing in 20 Patients.

Zwaveling-Soonawala N et al.

The Journal of Clinical Endocrinology and Metabolism, 2018

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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."