Molecular profiling of an Indian EB cohort - a single centre experience.
Anoop KumarManu JamwalSmriti GuptaRitika SharmaNamrata SinghLaveena KaushalSahil KumarVinod KumarBiswanath BeheraDipankar DeSanjeev HandaUma NaharDebajyoti ChatterjeeReena DasRahul MahajanPublished in: Clinical and experimental dermatology (2024)
Our study unveiled several novel genetic variants; severe phenotypes associated with nonsense genetic variants. These findings offer valuable insights for future clinical assessments and tailored management strategies.
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