Optimization and Validation of Multimodular, Long-Range PCR–Based Next-Generation Sequencing Assays for Comprehensive Detection of Mutation in Tuberous Sclerosis Complex-Reference-Cited by-同舟云学术

Optimization and Validation of Multimodular, Long-Range PCR–Based Next-Generation Sequencing Assays for Comprehensive Detection of Mutation in Tuberous Sclerosis Complex

Published:2021-04 Issue:4 Volume:23 Page:424-446
ISSN:1525-1578
Container-title:The Journal of Molecular Diagnostics
language:en
Short-container-title:The Journal of Molecular Diagnostics

Author:

Togi Sumihito^ORCID,Ura Hiroki^ORCID,Niida Yo^ORCID

Funder

Japan Society for the Promotion of Science

Kanazawa Medical University

Publisher

Elsevier BV

Subject

Molecular Medicine,Pathology and Forensic Medicine

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4. Genotype/phenotype correlations in tuberous sclerosis complex;Curatolo;Semin Pediatr Neurol,2015

5. Identification of 54 large deletions/duplications in TSC1 and TSC2 using MLPA, and genotype-phenotype correlations;Kozlowski;Hum Genet,2007

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