Genetics in Medicine Open (Jan 2025)
P785: Premature termination codon variants in CHD1 and SF3B2 in a complex pedigree with phenotypic variability
- Jan Verheijen,
- John O'Shea,
- Steven Boyden,
- Thomas Nicholas,
- Erin Baldwin,
- Ashley Andrews,
- Lorenzo Botto,
- David Viskochil,
- Russell Butterfield,
- Pinar Bayrak-Toydemir,
- Rong Mao
Affiliations
- Jan Verheijen
- University of Utah Health, ARUP Laboratories
- John O'Shea
- University of Utah Health, ARUP Laboratories
- Steven Boyden
- Department of Human Genetics, Utah Center for Genetic Discovery, University of Utah, Salt Lake City, UT
- Thomas Nicholas
- Department of Human Genetics, Utah Center for Genetic Discovery, University of Utah, Salt Lake City, UT
- Erin Baldwin
- Division of Medical Genetics, Department of Pediatrics, University of Utah, Salt Lake City, UT
- Ashley Andrews
- Division of Medical Genetics, Department of Pediatrics, University of Utah, Salt Lake City, UT
- Lorenzo Botto
- Division of Medical Genetics, Department of Pediatrics, University of Utah, Salt Lake City, UT
- David Viskochil
- Division of Medical Genetics, Department of Pediatrics, University of Utah, Salt Lake City, UT
- Russell Butterfield
- Division of Pediatric Neurology, University of Utah, Salt Lake City, UT
- Pinar Bayrak-Toydemir
- University of Utah Health, ARUP Laboratories
- Rong Mao
- University of Utah Health, ARUP Laboratories
- Journal volume & issue
-
Vol. 3
p. 103154
