five

whole exome sequencing of an RP family

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NIAID Data Ecosystem2026-05-01 收录
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https://www.ncbi.nlm.nih.gov/sra/SRP480884
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资源简介:
The patient and her mother were diagnosed with retinitis pigmentosa after detailed physical examination and special examination due to binocular vision for many years. The mutant gene and site were determined by whole exon sequencing for understanding the pathogenesis and determining further treatment options
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2024-01-06
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