Review began 02/01/2023 review ended 02/27/2023 published 03/01/2023 © copyright

HIGHLIGHTS

• who: Report and colleagues from the Laboratory, Maggiore della Caritu00e0 Hospital, Department of Health Sciences, University of Eastern have published the Article: Review began 02/01/2023 Review ended 02/27/2023 Published 03/01/2023 u00a9 Copyright, in the Journal: (JOURNAL) of March/01,/2023
• what: The analysis was conducted using whole exome sequencing (WES) with the Illumina NextSeq platform with target sequencing methodology on genomic DNA extracted from the whole blood of the parents, collected with their informed consent for genetic diagnostic and research analyses.

SUMMARY

Biallelic mutations in . . .

 



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