P672: Long-read sequencing reveals a novel pathogenic variant in IKBKG with associated skewed X-inactivation in affected females

Miller, Danny; Dash, Camille A; Miller, D. H.; Galey, Miranda; Lin, Jasmine; Madden, Jill A.; Beggs, Alan H.; Agrawal, Pankaj B.; Genetti, Casie A.; Wojcik, Monica H.

doi:10.1016/j.gimo.2023.100737

Genetics in Medicine Open

2023

DOI: 10.1016/j.gimo.2023.100737

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P672: Long-read sequencing reveals a novel pathogenic variant in IKBKG with associated skewed X-inactivation in affected females

Danny Miller¹,

Camille A Dash²,

D. H. Miller³

et al.

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P672: Long-read sequencing reveals a novel pathogenic variant in IKBKG with associated skewed X-inactivation in affected females

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