Varaico: Literature-Extracted Genetic Variants

Gene:HIVEP2
Variant:p.K1717insFs
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HIVEP2

NM_006734.4:p.K1717insFs

Associated Papers

Clinical and Neuropsychological Phenotyping of Individuals With Somatic Variants in Neurodevelopmental Disorders.

Mo A et al.

Neurology. Genetics, 2025

Clinical variants paired with phenotype: A rich resource for brain gene curation.

Chopra M et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2024

38059438 (PubMed )
Supplement: NIHMS1951004-supplement-1.xlsx › All_Variants

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
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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."