Varaico: Literature-Extracted Genetic Variants

Gene:HIVEP2
Variant:p.Q1896*
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HIVEP2

NM_006734.4:p.Q1896*

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

Neurodevelopmental profile of HIVEP2-related disorder.

Mo A et al.

Developmental Medicine and Child Neurology, 2022

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