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
Clin Exp 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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Ocular findings in 34 patients with Alport syndrome, correlation of the findings to mutations in COL4A5 gene
Acta Ophthalmologica Scandinavica. 1999;77(2):214-217   Crossref logo
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Whole exome sequencing identified two homozygous ALMS1 mutations in an Iranian family with Alström syndrome
Gene. 2020;727:144228   Crossref logo
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Marfan syndrome: whole-exome sequencing reveals de novo mutations, second gene and genotype–phenotype correlations in the Chinese population
Bioscience Reports. 2020;40(12):   Crossref logo
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Recurrent Somatic Mutations in Human Gastric Cancers Identified by Whole Exome Sequencing
Gastroenterology. 2012;143(5):1385-1387   Crossref logo
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Whole exome sequencing identified mutations causing hearing loss in five consanguineous Pakistani families
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Whole exome sequencing identified mutations causing hearing loss in five consanguineous Pakistan families
. 2019;   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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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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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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