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A new variant in the ZCCHC8 gene: diverse clinical phenotypes and expression in the lung.

Karlijn GroenJoanne J van der VisAernoud A van BatenburgKarin M KazemierMarjolein J W de BruijnRalph StadhoudersPascal ArpAnnemieke J M H VerkerkAngela E SchoemakerCharlotte I de BieMaarten P G MassinkFrouke T van BeekJan C GruttersLeonie J M VergouwColine H M van Moorsel
Published in: ERJ open research (2024)
gene in diagnostic gene panels for these diseases.
Keyphrases
  • copy number
  • genome wide
  • genome wide identification
  • poor prognosis
  • gene expression
  • genome wide analysis