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Whole exome sequencing reveals novel candidate variants for endometriosis utilizing multiple affected members in a single family.

Busra Gizem KinaNura Fitnat Topbas SelcukiPinar Yalcin BahatTaner UstaSevcan AydinNilufer RahmiogluFeyza Nur TuncerEngin Oral
Published in: Molecular genetics & genomic medicine (2023)
Novel candidate genetic variants that might contribute to endometriosis were suggested that need replication through independent cohorts or validation by functional studies. The family has also received genetic counseling and that the affected daughters are on clinical follow-up, accordingly.
Keyphrases
  • copy number
  • genome wide
  • smoking cessation
  • hiv testing
  • hepatitis c virus