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Comprehensive Analysis of the NF1 gene Using Long-Read Sequencing Improved Neurofibromatosis type 1 Molecular Diagnosis

2024-12-09

Abstract excerpt

<title>Abstract</title> <p>Clinical diagnosing Neurofibromatosis type 1 (NF1) in pediatrics are facing challenges because of limited presence of age-dependent phenotypes, and the limited detection rate by current approaches for the complexity of the <italic>NF1</italic> gene. Here we developed a comprehensive analysis of NF1 (CANF1) combining 14 long-range locus-specific PCR, 25 gap primers and long-read sequenci...

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Literature Corpus work: 4e471664-2451-5109-b984-815b38be6c52
DOI: 10.21203/rs.3.rs-5382766/v1

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