P173: Precision animal modeling and VUS-resolution in a novel AXIN2-related disorder
Year: 2024
Type: article
Abstract: De novo, heterozygous variants of uncertain significance present a conundrum in the medical genetics clinic. Precision animal models are one strategy for providing functional data to support the pathogenicity of such variants. The BCM Center for Precision Medicine Models was established to end the diagnostic odyssey for patients with rare and undiagnosed diseases by modeling variants of uncertain significance. However, when variants are associated with a severe, early-onset phenotype, modeling in mice can be complicated by lethality.
Source: Genetics in Medicine Open
Authors: Lindsay Burrage, Denise Lanza, Paul Marcogliese, Di Lu, Chih-Wei Logan Hsu, Nathalie Aceves, Matthew Gonzalez, Audrey Christiansen, Tara Rasmussen, Angelina Gaspero, John Seavitt, Mary Dickinson, Brian Shayota, Stephanie Pachter, Debra-Lynn Day-Salvatore, Oguz Kanca, Michael Wangler, Lorraine Potocki, Jill Rosenfeld, Brendan Lee, Shinya Yamamoto, Hugo Bellen, Jason Heaney
Language: English
Topic: Genomics and Rare Diseases
Subfield: Genetics
Domain: Life Sciences
Open Access status: gold
Estimated APC paid: $3,200
OpenAlex ID: W4392606896