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A rare variant c.1802T>C (p. Ile601Thr) associated with severe phenotype among people with cystic fibrosis from south India, and potential genetic admixture in Réunion, France.

Madhan KumarRekha AaronSneha D VarkkiSumita DandaSarath RanganathanGrace R Paul
Published in: Pediatric pulmonology (2024)
Keyphrases
  • genome wide
  • early onset
  • copy number
  • gene expression
  • dna methylation
  • risk assessment