Integration of validated functional evidence to support the pathogenicity of KCNH2 variants.

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Bibliographic Details
Title: Integration of validated functional evidence to support the pathogenicity of KCNH2 variants.
Authors: Aljassar RW; Department of Pediatrics, Faculty of Medicine, Kuwait University, Kuwait City, Kuwait., Shen Q; Mark Cowley Lidwill Research Program in Cardiac Electrophysiology, Victor Chang Cardiac Research Institute, Darlinghurst, NSW, Australia., Albash B; Department of Genetics, Ghanima Al Ghanem Center, Ministry of Health, Kuwait City, Kuwait., Vandenberg JI; Mark Cowley Lidwill Research Program in Cardiac Electrophysiology, Victor Chang Cardiac Research Institute, Darlinghurst, NSW, Australia.; School of Clinical Medicine, UNSW Sydney, Darlinghurst, NSW, Australia., Ebrahim MA; Department of Pediatrics, Faculty of Medicine, Kuwait University, Kuwait City, Kuwait., Ng CA; Mark Cowley Lidwill Research Program in Cardiac Electrophysiology, Victor Chang Cardiac Research Institute, Darlinghurst, NSW, Australia.; School of Clinical Medicine, UNSW Sydney, Darlinghurst, NSW, Australia.
Source: Genetics in medicine open [Genet Med Open] 2024 Jul 16; Vol. 2, pp. 101868. Date of Electronic Publication: 2024 Jul 16 (Print Publication: 2024).
Publication Type: Journal Article
Journal Info: Publisher: Elsevier Inc Country of Publication: United States NLM ID: 9918734281906676 Publication Model: eCollection Cited Medium: Internet ISSN: 2949-7744 (Electronic) Linking ISSN: 29497744 NLM ISO Abbreviation: Genet Med Open Subsets: PubMed not MEDLINE
Database: MEDLINE Ultimate
Description
ISSN:2949-7744
DOI:10.1016/j.gimo.2024.101868