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Discovery and functional analysis of a novel ALPK1 variant in ROSAH syndrome

  • Tom Snelling
  • , Leo O. Garnotel
  • , Isabelle Jeru
  • , Maud Tusseau
  • , Laurence Cuisset
  • , Antoinette Perlat
  • , Geoffrey Minard
  • , Thibaut Benquey
  • , Yann Maucourant
  • , Nicola T. Wood
  • , Philip Cohen
  • , Alban Ziegler (Lead / Corresponding author)

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Biochemistry, Genetics and Molecular Biology

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