PARN

  • 1 lab in 1 country

Associations

1

Telomere biology disorders

mixedin humans1

1 study
  1. PARN is associated with telomere biology disorders in humans.

    “The clinical-genetic correlation in this case supported a diagnosis of a telomere biology disorder (TBD).”

    HumansMonoallelic PARN c.613T>C; p.Cys205Arg variant classified as a Variant of Uncertain Significance; diagnosis supported by clinical-genetic correlationfemales

    Monoallelic PARN mutation presenting as pancytopenia, hepatic fibrosis and idiopathic pulmonary fibrosis

    BMJ case reports1 Feb 2026

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