P696: Case presentation: Co-segregation of a rare GLA variant of uncertain significance within 2 multiplex families facilitates variant reclassification to pathogenic
Main Authors: | , , , , |
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Format: | Article |
Language: | English |
Published: |
Elsevier
2024-01-01
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Series: | Genetics in Medicine Open |
Online Access: | http://www.sciencedirect.com/science/article/pii/S2949774424007465 |