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. Author manuscript; available in PMC: 2021 Sep 29.
Published in final edited form as: Nat Genet. 2021 Mar 29;53(4):500–510. doi: 10.1038/s41588-021-00803-4

Extended Data Fig. 1. Genetic analysis pipeline and validation of heterozygous variants by sanger sequencing.

Extended Data Fig. 1

Variant identification pipeline and Sanger sequencing validation of WES data for (a) Patient 1 (p.S550Y), (b) Patient 2 (p.S550F) and Patient 3 (p.S550F) and (c) Patient 4 (p.P342T). (d) Chronologic disease course and Sanger sequencing validation for Patient 5 (p.M450I) and (e) Patient 6 (p.A353T).