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1.
Monoallelic intragenic POU3F2 variants lead to neurodevelopmental delay and hyperphagic obesity, confirming the gene's candidacy in 6q16.1 deletions.
Am J Hum Genet
; 110(6): 998-1007, 2023 06 01.
Article
in English
| MEDLINE | ID: mdl-37207645
2.
The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change.
Genet Med
; 25(12): 100947, 2023 Dec.
Article
in English
| MEDLINE | ID: mdl-37534744
3.
Multiple Copy Number Variants Detected by Noninvasive Prenatal Testing.
Clin Chem
; 68(5): 627-632, 2022 05 18.
Article
in English
| MEDLINE | ID: mdl-35584795
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