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. 2022 Oct 17;11:e78469. doi: 10.7554/eLife.78469

Author response image 2. Patient 9: RPL27A Chr11(GRCh37):g.8707228T>C NM_000990.4:c.322T>C p.(Tyr108His).

Author response image 2.

Validated by an independent test (identified by single and trio-based WES).