Varaico: Literature-Extracted Genetic Variants

Gene:IHH
Variant:p.R160C
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IHH

NM_002181.4:p.R160C

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

A Novel Biallelic Variant in IHH Causing Acrocapitofemoral Dysplasia in a Pakistani Family.

Saeed T et al.

Molecular Genetics & Genomic Medicine, 2025

Acrocapitofemoral dysplasia: Novel mutation in IHH in two adult patients from the third family in the literature and progression of the disease.

Ozyavuz Cubuk P et al.

European Journal of Medical Genetics, 2021

Genomic and Transcriptomic Characterization of Relapsed SCLC Through Rapid Research Autopsy.

Chen HZ et al.

Jto Clinical and Research Reports, 2021

34590014 (PubMed )
Supplement: mmc4.xlsx › T1
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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."