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Keyword [minigene]
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21. Splicing Variation Analysis Of Hmbs Gene In Acute Intermittent Porphyria In China And Pathogenicity Validation Of Two Non-classical Regional Splicing Variations
22. Clinical Features Of A Case With Neonatal CHARGE Syndrome And Fuctional Verification Of Novel Mutation In CHD7
23. Clinical,Family Investigation And Gene Pathogenesis Study Of 4 Patients With Phytosteroemia
24. High-Throughput Sequencing Combined With Minigene To Verify Gene Detection And Deafness Application Of Pathogenicity Identification Of New Splicing Variants
25. Identification Of The Disease-causing Gene Variants In A Family With Primary Ciliary Dyskinesia
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