Varaico: Literature-Extracted Genetic Variants

Gene:TIGD7
Variant:p.A300insFs
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TIGD7

NM_033208.4:p.A300insFs

Associated Papers

A Novel, Heterozygous, de novo Splicing Variant Affecting the Intracellular Domain of the Growth Hormone Receptor, and Causing a Mild Short Stature.

Giannakopoulos A et al.

Hormone Research in Paediatrics, 2024

Identification and In Vitro Functional Verification of Two Novel Mutations of GHR Gene in the Chinese Children with Laron Syndrome.

Li R et al.

Frontiers in Endocrinology, 2021

33912130 (PubMed )
Supplement: Table_1.docx
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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."