Whole exome sequencing analysis in a couple with three children who died prematurely due to carnitine-acylcarnitine translocase deficiency
Objective: We investigated a strategy of exome sequencing DNA from the unaffected parents and applied a set of filtering criteria to identify genes where both partners are heterozygous for a potentially pathogenic variant. Case report: We report a non-consanguineous couple who had three daughters, a...
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| Main Authors: | , , , , , , , , |
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| Format: | Book |
| Published: |
Elsevier,
2022-01-01T00:00:00Z.
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| Online Access: | Connect to this object online. |
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