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A novel nonsense variant in the CHD7 gene in a patient with CHARGE syndrome in Y...
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F. M. Teryutin
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CHD7 -associated disorders
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CHD7 gene
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Yakutia
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genotype-phenotypic analysis
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whole exome analysis
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ген CHD7
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генотип-фенотипический анализ
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полноэкзомный анализ
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