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Clinical implementation of RNA sequencing for Mendelian disease diagnostics

Thompson, S

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Mutation of E 74 to glutamine (Q) also induced helical formation in the CHAC2 loop 2, suggesting it might be the catalytically relevant glutamate residue that alternates with E 83 (Nguyen et al., 2020)

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The authors suggested that the lack of VIP-mediated gland secretion might promote a hyper-inflammatory airway environment that contributes to CF lung disease