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Comparison of clinical yields of single-gene versus NGS panel tests.

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Figshare2015-12-02 更新2026-04-29 收录
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aDiagnostic yield expressed as a percentage of total analyzed samples; P1, Includes testing for COL6A1, COL6A2, COL6A3, ITGA7, FKTN, FKRP, POMGNT1, POMT1, POMT2, SEPN1, LARGE, LAMA2; P2, Includes testing for COL6A1, COL6A2, COL6A3; P3, Includes testing for FKTN, FKRP, POMGNT1, POMT1, POMT2, LARGE, LAMA2; P4, Includes testing for COL6A1, COL6A2, COL6A3, ITGA7, SEPN1.

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2015-12-02
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