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Article
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Female
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Humans
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Pedigree
clinical article
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genetics
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human
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pedigree
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case report
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Base Sequence
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Male
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Mutation
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high throughput sequencing
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male
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mutation
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nucleotide sequence
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Adult
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Chinese
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Sanger sequencing
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adult
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gene
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gene mutation
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heterozygosity
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whole exome sequencing
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Asian Continental Ancestry Group
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Asian continental ancestry group
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China
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Family
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Heterozygote
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1by Anžej Doma, S., Debeljak, N., Fink, M., Gašperšič, J., Količ, R., Kristan, A., Kunej, T., Pajič, T., Podgornik, H., Preložnik Zupan, I., Režen, T., Vuga, A., Žula, ŠSubjects: “...nucleotide sequence...”
Published 2021
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