Varaico: Literature-Extracted Genetic Variants

Gene:IER3IP1
Variant:p.A18V
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IER3IP1

NM_016097.5:p.A18V

Associated Papers

Inseparable/IER3IP1 are essential for cytokinesis in Drosophila neuroblasts and human cells.

Kakade AA et al.

Proceedings of the National Academy of Sciences of the United States of America, 2025

Microcephaly, Epilepsy, and Diabetes Syndrome 1: A Moroccan Case Report of Novel Compound Heterozygous IER3IP1 Mutations and Literature Review.

Jelti H et al.

Balkan Journal of Medical Genetics : Bjmg, 2025

A New Variant of the IER3IP1 Gene: The First Case of Microcephaly, Epilepsy, and Diabetes Syndrome 1 from Turkey

Söbü E et al.

Journal of Clinical Research in Pediatric Endocrinology, 2024

IER3IP1-mutations cause microcephaly by selective inhibition of ER-Golgi transport.

Anitei M et al.

Cellular and Molecular Life Sciences : Cmls, 2024

Essential requirement for IER3IP1 in B cell development.

Zhong X et al.

Proceedings of the National Academy of Sciences of the United States of America, 2023

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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."