Varaico: Literature-Extracted Genetic Variants

Gene:IHH
Variant:p.V178L
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IHH

NM_002181.4:p.V178L

Associated Papers

A Novel Heterozygous IHH c.331_333del Mutation Identified in a Fetus with Brachydactyly Type A1 Causes IHH Protein Maturation Failure in HEK293T Cells.

Zhu T et al.

Phenomics (cham, Switzerland), 2025

Diagnostic yield of a multigene sequencing approach in children classified as idiopathic short stature.

Andrade NLM et al.

Endocrine Connections, 2022

IHH Gene Mutations Causing Short Stature With Nonspecific Skeletal Abnormalities and Response to Growth Hormone Therapy.

Vasques GA 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."