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

Author response image 5. Patient 28: KCTD9 Chr8(GRCh37):g.25292997C>T NM_017634.3:c.695G>A p.(Arg232His).

Author response image 5.

Score <500, but validated by an independent test (Sanger sequencing).