Varaico: Literature-Extracted Genetic Variants

Gene:GH1
Variant:p.S97_N98Splc
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GH1

NM_000515.5:p.S97_N98Splc

Associated Papers

Growth hormone treatment outcomes in children with genetic isolated growth hormone deficiency.

Aouchiche K et al.

European Journal of Pediatrics, 2025

IGSF1 mutations are the most frequent genetic aetiology of thyrotropin deficiency.

Fourneaux R et al.

European Journal of Endocrinology, 2022

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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."