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Genetics in Medicine Open
(Jan 2024)
P696: Case presentation: Co-segregation of a rare GLA variant of uncertain significance within 2 multiplex families facilitates variant reclassification to pathogenic
Mary Colasanto,
Yinghong Pan,
Ruby Liu,
Christin Collins,
Madhuri Hegde
Affiliations
Mary Colasanto
Revvity Omics
Yinghong Pan
Revvity Omics
Ruby Liu
Revvity Omics
Christin Collins
Revvity Omics
Madhuri Hegde
Revvity Omics
Journal volume & issue
Vol. 2
p. 101600
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