Kruszka #pacbioprism A few example cases: Paralogs - misalignment of reads from highly similar copies. Shows figure from 2022 ref https://t.co/xdIXjPnqb3 and onto CYP21A2 is not called - 2022 ref https://t.co/nwWrLf3D8N
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Molecular Diagnosis of Steroid 21-Hydroxylase Deficiency: A Practical Approach https://t.co/tMtLWEmRUr https://t.co/TT0XzWCTSq
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New Research: Molecular Diagnosis of Steroid 21-Hydroxylase Deficiency: A Practical Approach: Adrenal insufficiency in paediatric patients is mostly due to congenital adrenal hyperplasia (CAH), a severe monogenic disease caused by… https://t.co/cPRTvBjvyj