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Identification of a novel protein truncating mutation p.Asp98* in XPC associated with xeroderma pigmentosum in a consanguineous Pakistani family.

Muhammad Z AliJasmin BlattererMuzammil Ahmad KhanErich SchaflingerErwin PetekSafeer AhmadEjazullah KhanChristian Windpassinger
Published in: Molecular genetics & genomic medicine (2020)
The study expands the knowledge of the mutational spectrum of XPC and is valuable for genetic counseling of affected individuals and their families.
Keyphrases
  • healthcare
  • genome wide
  • smoking cessation
  • gene expression
  • binding protein
  • protein protein
  • amino acid
  • bioinformatics analysis