Varaico: Literature-Extracted Genetic Variants

Gene:IHH
Variant:p.T130fs
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IHH

NM_002181.4:p.T130fs

Associated Papers

Insights into the Molecular Pathogenesis of Short Stature: the Role of the IHH c.331_333del Mutation and Implications for Treatment.

Ke Y et al.

Phenomics (cham, Switzerland), 2025

Short stature with brachydactyly caused by a novel mutation in the IHH gene and response to 4-year growth hormone therapy: a case report.

Chen Y et al.

Translational Pediatrics, 2024

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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."