Varaico: Literature-Extracted Genetic Variants

Gene:HIVEP2
Variant:p.D1913delFs
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HIVEP2

NM_006734.4:p.D1913delFs

Associated Papers

Parental gonadossomatic mosaicism in HIVEP2-related intellectual disability and impact on genetic counseling-case report.

Abreu M et al.

Frontiers in Genetics, 2023

37441550 (PubMed )
Supplement: DataSheet2.PDF

Expanding the Phenotypic Spectrum of HIVEP2-Related Intellectual Disability: Description of Two Portuguese Patients and Review of the Literature.

Quental R et al.

Molecular Syndromology, 2022

Novel HIVEP2 Variants in Patients with Intellectual Disability.

Park J et al.

Molecular Syndromology, 2019

Prioritized High-Confidence Risk Genes for Intellectual Disability Reveal Molecular Convergence During Brain Development.

Liu Z et al.

Frontiers in Genetics, 2018

30279698 (PubMed )
Supplement: Table_2.XLS › Sheet1

Loss-of-function variants in HIVEP2 are a cause of intellectual disability.

Srivastava S et al.

European Journal of Human Genetics : Ejhg, 2016

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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."