Work

Reclassifying a LAMP2 Splicing Variant of Uncertain Significance to Pathogenic Following Familial Segregation and Functional RNA Diagnostics

Year: 2022

Type: article

Study design: Case Report

Source: Heart Lung and Circulation

DOI: 10.1016/j.hlc.2022.04.019

Authors: A. Horton, A. Bournazos, F. Cunningham, M. Regan, S. Hope, I. Macciocca, E. Krzesinski, M. Hunter, S. Cooper

Institutions: Monash Children’s Hospital, Monash Health, Monash University, The University of Sydney, Children's Hospital at Westmead, Westmead Hospital, Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Children's Medical Research Institute

Language: English

Topic: Genomics and Rare Diseases

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: bronze

OpenAlex ID: W4285229362

FWCI:

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Related to: 10