Case Report: Identification of Polygenic Mutations by Exome Sequencing
The discovery of rare genetic variation through different gene sequencing methods is a very challenging subject in the field of human genetics. A case of a 1-year-old boy with metabolic acidosis and hypokalemia, a small penis, growth retardation, and G-6PD deficiency was reported. Since the clinical...
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| Main Authors: | , , |
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| Format: | Book |
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Frontiers Media S.A.,
2021-10-01T00:00:00Z.
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| Call Number: |
A1234.567 |
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| Copy 1 | Available |