Varaico: Literature-Extracted Genetic Variants

Gene:IRX5
Variant:p.A150P
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IRX5

NM_005853.6:p.A150P

Associated Papers

Clinical and Molecular Update on the Fourth Reported Family with Hamamy Syndrome.

Mégarbané A et al.

Molecular Syndromology, 2021

Human model of IRX5 mutations reveals key role for this transcription factor in ventricular conduction.

Al Sayed ZR et al.

Cardiovascular Research, 2021

Understanding the role of Iroquois homeobox transcription factor 5 (IRX5) in cardiac function: getting to the (human) heart of the matter.

Kim KH et al.

Cardiovascular Research, 2021

Loss of Iroquois homeobox transcription factors 3 and 5 in osteoblasts disrupts cranial mineralization.

Cain CJ et al.

Bone Reports, 2016

Mutations in IRX5 impair craniofacial development and germ cell migration via SDF1.

Bonnard C et al.

Nature Genetics, 2012

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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."