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From incomplete penetrance with normal telomere length to severe disease and telomere shortening in a family with monoallelic and biallelic PARN pathogenic variants

Human Mutation

Dec 26, 2019

Lois M DodsonAlison A. Bertuch

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Abstract

PARN encodes poly(A)-specific ribonuclease. Biallelic and monoallelic PARN variants are associated with Hoyeraal-Hreidarsson syndrome/dyskeratosis congenita and idiopathic pulmonary fibrosis (IPF), respectively. The molecular features associated with incomplete penetrance of PARN-associ...read more

Mentioned in this Paper

Alleles
Mental Association
Poly(A)-specific ribonuclease
Telomere
Protein Activation
Small Nucleolar RNA
Analysis
Protein Adenylylation
PARN gene
PARN protein, human
1
6
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From incomplete penetrance with normal telomere length to severe disease and telomere shortening in a family with monoallelic and biallelic PARN pathogenic variants

Human Mutation

Dec 26, 2019

Lois M DodsonAlison A. Bertuch

PMID: 31448843

DOI: 10.1002/humu.23898

Abstract

PARN encodes poly(A)-specific ribonuclease. Biallelic and monoallelic PARN variants are associated with Hoyeraal-Hreidarsson syndrome/dyskeratosis congenita and idiopathic pulmonary fibrosis (IPF), respectively. The molecular features associated with incomplete penetrance of PARN-associ...read more

Mentioned in this Paper

Alleles
Mental Association
Poly(A)-specific ribonuclease
Telomere
Protein Activation
1
6

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Paper Details
References
  • References66
  • Citations
12345...
  • References66
  • Citations
  • quote and clock

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    This paper may not have been cited yet.

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