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High prevalence of MUTYH associated polyposis among minority populations in Israel, due to rare founder pathogenic variants.

Gili Reznick LeviYael GoldbergHanna SegevItay MazaYuri GorelikIdo LaishZohar LeviInbal KedarSonia Naftali NathanNitzan Sharon SwartzmanNaim Abu FrehaMaya ParitskyGad RennertHagit Baris FeldmanTamar PapernaKarin WeissElizabeth E Half
Published in: Digestive and liver disease : official journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver (2023)
MAP accounted for 27% of polyposis cases in the Arab population of Northern Israel. PVs spectrum is unique, with high frequency of the founder variant p.Glu452del. Our results may inform the genetic testing strategy in the Israeli Arab population.
Keyphrases
  • high frequency
  • transcranial magnetic stimulation
  • chronic rhinosinusitis
  • copy number
  • gene expression
  • dna methylation
  • high density