Publications:

Comprehensive de novo mutation discovery with HiFi long-read sequencing.

Genome Medicine

Kucuk, Erdi E; van der Sanden, Bart P G H BPGH; O'Gorman, Luke L; Kwint, Michael M; Derks, Ronny R; Wenger, Aaron M AM; Lambert, Christine C; Chakraborty, Shreyasee S; Baybayan, Primo P; Rowell, William J WJ; Brunner, Han G HG; Vissers, Lisenka E L M LELM; Hoischen, Alexander A; Gilissen, Christian C

Publication Date: 2023-05-08

Variant appearance in text: WDR43: 225+132C>T

PubMed Link: 37158973

Variant Present in the following documents:

• 13073_2023_1183_MOESM2_ESM.xlsx, sheet 1
• 13073_2023_1183_MOESM4_ESM.xlsx, sheet 1

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