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Showing 1 - 9 results of 9 for search '"nucleotide sequence"', query time: 2.69s Refine Results
  1. 1
    A novel COL2A1 mutation causing spondyloepiphyseal dysplasia congenita in a Chinese family
    Subjects: “...nucleotide sequence...”
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  2. 2
    Development of novel quality control material based on CRISPR/Cas9 editing and xenografts for MLH1 protein deficiency testing
    Subjects: “...nucleotide sequence...”
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  3. 3
    Mitochondrial DNA mutations in Malaysian female breast cancer patients
    Subjects: “...High-Throughput Nucleotide Sequencing...”
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  4. 4
    A splicing LMNA mutation causing laminopathies accompanied by aortic valve malformation
    by Duan, J., Li, S., Pi, X., Tao, J., Wang, H.
    Published 2021
    Subjects: “...nucleotide sequence...”
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  5. 5
    Clinical and molecular genetic analysis of a Chinese family with hereditary elliptocytosis caused by a novel mutation in the EPB41 gene
    by Cao, M., Huang, Z., Lin, J., Zhang, D., Zhou, H.
    Published 2021
    Subjects: “...High-Throughput Nucleotide Sequencing...”
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    Article
  6. 6
    Identification of a novel heterozygous mutation in the MITF gene in an Iranian family with Waardenburg syndrome type II using next-generation sequencing
    Subjects: “...High-Throughput Nucleotide Sequencing...”
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    Article
  7. 7
    A novel WT1 gene mutation in a chinese girl with denys-drash syndrome
    Subjects: “...nucleotide sequence...”
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    Article
  8. 8
    A next generation sequencing-based protocol for screening of variants of concern in autism spectrum disorder
    Subjects: “...High-Throughput Nucleotide Sequencing...”
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    Article
  9. 9
    Cross-platform comparison of next-generation sequencing and matrix-assisted laser desorption/ionization time-of-flight mass spectrometry for detecting KRAS/NRAS/BRAF/PIK3CA mutations in cfDNA from metastatic colorectal cancer patients
    Subjects: “...High-Throughput Nucleotide Sequencing...”
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    Article
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