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• W3090396957 abstract "Abstract Herein, we report two female cases with novel nonsense mutations of STAG2 at Xq25, encoding stromal antigen 2, a component of the cohesion complex. Exome analysis identified c.3097 C>T, p.(Arg1033*) in Case 1 (a fetus with multiple congenital anomalies) and c.2229 G>A, p.(Trp743*) in Case 2 (a 7-year-old girl with white matter hypoplasia and cleft palate). X inactivation was highly skewed in both cases." @default.
• W3090396957 created "2020-10-08" @default.
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• W3090396957 date "2020-09-18" @default.
• W3090396957 modified "2023-10-18" @default.
• W3090396957 title "Nonsense variants of STAG2 result in distinct congenital anomalies" @default.
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• W3090396957 doi "https://doi.org/10.1038/s41439-020-00114-w" @default.
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