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Keyword [pathogenic variant]
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1. Searching For The Pathogenic Variant Of A Olmsted Syndrome-like Pedigree By Whole Exome Sequencing
2. Identify Pathogenic Variant For Usher Syndrome By Wholeexome Sequencing
3. Clinical Heterogeneity Analysis Of Glanzmann’s Thrombasthenia And A Pilot Study Of Gene Editing
4. Identifying A Pathogenic Variant Of Neuropsychiatric Systemic Lupus Erythematosus By Whole-exome Sequencing And Searching For The Pathogenesis
5. Study On Auditory Function Of Ifnlr1 Variant Knock-In Mouse Model And Identification Of New Pathogenic Variant Of FOXC1 Gene
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