A genotype-first approach identifies high incidence of NF1 pathogenic variants with distinct disease associations

Anton Safonov,Tomoki T Nomakuchi,Elizabeth Chao,Carrie Horton,Jill S Dolinsky,Amal Yussuf,Marcy Richardson,Virginia Speare,Shuwei Li,Zoe C Bogus,Maria Bonanni,Anna Raper,Staci Kallish,Marylyn D Ritchie,Regeneron Genetics Center,Penn Medicine BioBank,Katherine L Nathanson,Theodore G Drivas

medRxiv : the preprint server for health sciences（2023）

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Key words
of<i>nf1</i>pathogenic variants,distinct disease associations,genotype-first
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