P696: Case presentation: Co-segregation of a rare GLA variant of uncertain significance within 2 multiplex families facilitates variant reclassification to pathogenic

Mary Colasanto, Madhuri Hegde(Emory University), Yinghong Pan(Guangdong University of Technology), Ruby Liu, Christin Collins(PerkinElmer (United States))
Genetics in Medicine Open
January 1, 2024
Cited by 0


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