Varaico: Literature-Extracted Genetic Variants

Gene:IHH
Variant:p.R128Q
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IHH

NM_002181.4:p.R128Q

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

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

Brachydactyly A-1 mutations restricted to the central region of the N-terminal active fragment of Indian Hedgehog.

Byrnes AM et al.

European Journal of Human Genetics : Ejhg, 2009

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."