CrossRef Text and Data Mining
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De novo mutations in COL4A5 identified by whole exome sequencing in 2 girls with Alport syndrome in Korea
Kyoung Hee Han, Jong Eun Park, Chang-Seok Ki
Korean J Pediatr. 2019;62(5):193-197.   Published online November 26, 2018
DOI: https://doi.org/10.3345/kjp.2018.06772

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De novo mutations in COL4A5 identified by whole exome sequencing in 2 girls with Alport syndrome in Korea
Korean Journal of Pediatrics. 2019;62(5):193-197   Crossref logo
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Whole exome sequencing of embryo biopsies reveals clinically-significant de novo mutations
Fertility and Sterility. 2014;102(3):e25   Crossref logo
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De novo Mutations From Whole Exome Sequencing in Neurodevelopmental and Psychiatric Disorders: From Discovery to Application
Frontiers in Genetics. 2019;10:   Crossref logo
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Whole-Exome Sequencing Identifies a de novo AHDC1 Mutation in a Colombian Patient with Xia-Gibbs Syndrome
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De Novo Variants Associated With Developmental Disability
American Journal of Medical Genetics Part A. 2017;173(5):1139-1140   Crossref logo
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Alport syndrome cold cases: Missing mutations identified by exome sequencing and functional analysis
PLOS ONE. 2017;12(6):e0178630   Crossref logo
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Recurrent Somatic Mutations in Human Gastric Cancers Identified by Whole Exome Sequencing
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De novo KAT6B Mutation Identified with Whole-Exome Sequencing in a Girl with Say-Barber/Biesecker/Young-Simpson Syndrome
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Identification of a novel COL4A5 mutation in a Chinese family with X-linked Alport syndrome using exome sequencing
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Identification of De Novo DNMT3A Mutations That Cause West Syndrome by Using Whole-Exome Sequencing
Molecular Neurobiology. 2017;55(3):2483-2493   Crossref logo
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