Varaico: Literature-Extracted Genetic Variants

Gene:IQCE
Variant:p.G132fs
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IQCE

NM_152558.5:p.G132fs

Associated Papers

Novel IQCE variations confirm its role in postaxial polydactyly and cause ciliary defect phenotype in zebrafish.

Estrada-Cuzcano A et al.

Human Mutation, 2020

Exome sequencing revealed a splice site variant in the IQCE gene underlying post-axial polydactyly type A restricted to lower limb.

Umair M et al.

European Journal of Human Genetics : Ejhg, 2017

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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."