Penetrance of Deleterious Clinical Variants—Reply
Author:
Affiliation:
1. Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, New York
Publisher
American Medical Association (AMA)
Subject
General Medicine
Link
https://jamanetwork.com/journals/jama/articlepdf/2792257/jama_forrest_2022_lr_220026_1652453146.19033.pdf
Reference6 articles.
1. Population-based penetrance of deleterious clinical variants.;Forrest;JAMA,2022
2. The undiagnosed disease burden associated with alpha-1 antitrypsin deficiency genotypes.;Nakanishi;Eur Respir J,2020
3. Variability of pulmonary function in alpha-1-antitrypsin deficiency: clinical correlates.;Silverman;Ann Intern Med,1989
4. Assessing the pathogenicity, penetrance, and expressivity of putative disease-causing variants in a population setting.;Wright;Am J Hum Genet,2019
5. Improving the phenotype risk score as a scalable approach to identifying patients with mendelian disease.;Bastarache;J Am Med Inform Assoc,2019
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