Using reported pathogenic variants to identify therapeutic opportunities for genetic diseases

Ressler, A. K., & Goldstein, D. B. (2022). Using reported pathogenic variants to identify therapeutic opportunities for genetic diseases. Molecular Genetics & Genomic Medicine, 11(1). Portico. https://doi.org/10.1002/mgg3.2097
Authors:
Andrew K Ressler
David B Goldstein
Affiliated Authors:
Andrew K Ressler
David B Goldstein
Columbia Affiliation:
Subjects:
Genetic Diseases, Inborn (MeSH)
Author Keywords:
autosomal dominant
drug development
gain-of-function
missense variants
therapeutic inhibition
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Publication Type:
Article
Unique ID:
10.1002/mgg3.2097
PMID:
36374045
DOI:
10.1002/mgg3.2097
Journal:
Molecular Genetics and Genomic Medicine
Publication Date:
Data Source:
PubMed
Source Link:
View PubMed Record

Record Created: