Varaico: Literature-Extracted Genetic Variants

Gene:IHH
Variant:p.T130N
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IHH

NM_002181.4:p.T130N

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

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

Deletion of 2 amino acids in IHH in a Japanese family with brachydactyly type A1.

Ozaki N et al.

Bmc Medical Genomics, 2021

A novel variant of IHH in a Chinese family with brachydactyly type 1.

Yang Q et al.

Bmc Medical Genetics, 2020

Severe Form of Brachydactyly Type A1 in a Child with a c.298G > A Mutation in IHH Gene.

Salian S et al.

Journal of Pediatric Genetics, 2017

All mammalian Hedgehog proteins interact with cell adhesion molecule, down-regulated by oncogenes (CDO) and brother of CDO (BOC) in a conserved manner.

Kavran JM et al.

The Journal of Biological Chemistry, 2010

Brachydactyly type A1 associated with unusual radiological findings and a novel Arg158Cys mutation in the Indian hedgehog (IHH) gene.

Stattin EL et al.

European Journal of Medical Genetics, 0

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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."