Varaico: Literature-Extracted Genetic Variants

Gene:HK3
Variant:p.Q600H
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HK3

NM_002115.3:p.Q600H

Associated Papers

Identification of novel variants underlying non-syndromic primary ovarian insufficiency using a targeted NGS gene panel.

Veneziano C et al.

Frontiers in Endocrinology, 2025

41458559 (PubMed )
Supplement: Table5.xlsx › Patient_by_Patient_variants

Integrated Genomic, Functional, and Prognostic Characterization of Atypical Chronic Myeloid Leukemia.

Fontana D et al.

Hemasphere, 2020

33196013 (PubMed )
Supplement: hs9-4-e497-s006.xlsx › Sheet1

Genetic predisposition to fetal alcohol syndrome: association with congenital disorders of N-glycosylation.

de la Morena-Barrio ME et al.

Pediatric Research, 2018

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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."