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Comment
. 2022 May 17;327(19):1927.
doi: 10.1001/jama.2022.4634.

Penetrance of Deleterious Clinical Variants-Reply

Iain S Forrest  1 , Girish N Nadkarni  1 , Ron Do  1
Affiliations
Comment

Penetrance of Deleterious Clinical Variants-Reply

Iain S Forrest et al. JAMA. .
No abstract available

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References

    1. Forrest IS, Chaudhary K, Vy HMT, et al. Population-Based Penetrance of Deleterious Clinical Variants. JAMA. 2022;327(4):350–359. doi:10.1001/JAMA.2021.23686 - DOI - PMC - PubMed
    1. Nakanishi T, Forgetta V, Handa T, et al. The undiagnosed disease burden associated with alpha-1 antitrypsin deficiency genotypes. Eur Respir J. 2020;56(6). doi:10.1183/13993003.01441-2020 - DOI - PMC - PubMed
    1. Silverman EK, Pierce JA, Province MA, Rao DC, Campbell EJ. Variability of pulmonary function in alpha-1-antitrypsin deficiency: clinical correlates. Ann Intern Med. 1989;111(12):982–991. doi:10.7326/0003-4819-111-12-982 - DOI - PubMed
    1. Wright CF, West B, Tuke M, et al. Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting. Am J Hum Genet. 2019;104(2):275–286. doi:10.1016/j.ajhg.2018.12.015 - DOI - PMC - PubMed
    1. Bastarache L, Hughey JJ, Goldstein JA, et al. Improving the phenotype risk score as a scalable approach to identifying patients with Mendelian disease. J Am Med Informatics Assoc. 2019;26(12):1437–1447. doi:10.1093/jamia/ocz179 - DOI - PMC - PubMed