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Fig 1.

CONSORT flowchart.

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Table 1.

Patient characteristics.

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Table 1 Expand

Fig 2.

Pathogenic variants identified in 50 patients.

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Table 2.

Diagnosis with and without NGS results correlated to final diagnosis.

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Table 2 Expand

Table 3.

Changes in treatment plan after NGS integration.

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Table 3 Expand

Table 4.

Treatment plan after NGS integration compared to final diagnosis.

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Table 4 Expand