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Novel sequence variants in the MKKS gene cause Bardet-Biedl syndrome with intra- and inter-familial variable phenotypes.

Asmat UllahMaryam KhalidMuhammad UmairSher Alam KhanMuhammad BilalSaadullah KhanWasim Ahmad
Published in: Congenital anomalies (2017)
Keyphrases
  • copy number
  • genome wide
  • early onset
  • case report
  • genome wide identification
  • dna methylation
  • amino acid
  • gene expression