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Biorxiv : the Preprint Server for Biology|November 19, 2025
A Pangenomic Method for Establishing a Somatic Variant Detection Resource in HapMap MixturesNahyun Kong, Zitian Tang, Andrew Ruttenberg, et al.American Journal of Human Genetics|July 20, 2001
p63 Gene mutations in eec syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlationH van Bokhoven, B C Hamel, M Bamshad, et al.Biorxiv : the Preprint Server for Biology|January 9, 2026
Leveraging Human Pangenome for Improved Somatic Variant DetectionQichen Fu, Zilan Xin, Benpeng Miao, et al.American Journal of Human Genetics|December 12, 2000
Genotypic and phenotypic spectrum in tricho-rhino-phalangeal syndrome types I and IIIH J Lüdecke, J Schaper, P Meinecke, et al.Pageof 13