Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Kolt McBride"'
Autor:
Christopher E. Hopkins, Kathryn McCormick, Trisha Brock, Matthew Wood, Sarah Ruggiero, Kolt Mcbride, Christine Kim, Jennifer A. Lawson, Ingo Helbig, Matthew N. Bainbridge
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100823- (2023)
Purpose: Modeling disease variants in animals is useful for drug discovery, understanding disease pathology, and classifying variants of uncertain significance (VUS) as pathogenic or benign. Methods: Using Clustered Regularly Interspaced Short Palind
Externí odkaz:
https://doaj.org/article/c84e39be9bf34a37846af5269483e63a
Autor:
Lauren Resch, Christopher E Hopkins, Jennifer Lawson, Stelian Pop, Kathryn McCormick, Chandler Bradford, Kolt McBride, Trisha J. Brock, Ingo Helbig, Matthew J.A. Wood, Preston Kendrick, Adam Saunders, Christine S. Kim, Lan Guo, Matthew N. Bainbridge, Sarah E McKeown
PurposeFunctional evidence is a pillar of variant interpretation according to ACMG guidelines. Functional evidence can be obtained in a variety of models and assay systems, including patient-derived tissues and iPSCs, in vitro cellular assays, and in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::44f60b9eb0ab5b832c9fff0a44bd58f4
https://doi.org/10.1101/2021.08.13.453827
https://doi.org/10.1101/2021.08.13.453827
