Publications
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Author Title [ Year] Filters: Keyword is Cell Line and Author is Carvalho, Claudia M B [Clear All Filters]
Heterozygous Truncating Variants in POMP Escape Nonsense-Mediated Decay and Cause a Unique Immune Dysregulatory Syndrome. Am J Hum Genet 102, 1126-1142 (2018).
Chimeric transcripts resulting from complex duplications in chromosome Xq28. Hum Genet 135, 253-6 (2016).