Varaico: Literature-Extracted Genetic Variants

Gene:IHH
Variant:p.T154I
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IHH

NM_002181.4:p.T154I

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

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

Ozaki N et al.

Bmc Medical Genomics, 2021

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

Prenatal diagnosis of a family affected by brachydactyly type A1 with a mutation in IHH: a useful lesson.

Palka C et al.

Clinical Dysmorphology, 2012

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

A novel heterozygous mutation in the Indian hedgehog gene (IHH) is associated with brachydactyly type A1 in a Chinese family.

Liu M et al.

Journal of Human Genetics, 2006

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."