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Targeted long-read sequencing identifies a retrotransposon insertion as a cause of altered GNAS exon A/B methylation in a family with autosomal dominant pseudohypoparathyroidism type 1b


Authors: Danny E. Miller, Patrick Hanna, Miranda Galey, Monica Reyes, Agnès Linglart, Evan E. Eichler, Harald Jüppner

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