Varaico: Literature-Extracted Genetic Variants

Gene:IQCE
Variant:p.R450_E451delFs
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IQCE

NM_152558.5:p.R450_E451delFs

Associated Papers

Identification of a Novel IQCE Large Deletion through Copy Number Variant Analysis from Whole-Exome Sequencing Data of a Patient with Postaxial Polydactyly Type A7.

Tilemis FN et al.

Molecular Syndromology, 2023

A review of polydactyly and its inheritance: Connecting the dots.

Bubshait DK

Medicine, 2022

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

Estrada-Cuzcano A et al.

Human Mutation, 2020

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