Varaico: Literature-Extracted Genetic Variants

Gene:IHH
Variant:p.S182_K183del0
Back to variants list

IHH

NM_002181.4:p.S182_K183del0

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

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."