From incomplete penetrance with normal telomere length to severe disease and telomere shortening in a family with monoallelic and biallelic PARN pathogenic variants (Q92863447)
Jump to navigation
Jump to search
scientific article published on 15 September 2019
| Language | Label | Description | Also known as |
|---|---|---|---|
| English | From incomplete penetrance with normal telomere length to severe disease and telomere shortening in a family with monoallelic and biallelic PARN pathogenic variants |
scientific article published on 15 September 2019 |
Statements
From incomplete penetrance with normal telomere length to severe disease and telomere shortening in a family with monoallelic and biallelic PARN pathogenic variants (English)
Mikael Nissbeck
Sethu M R Gunja
Geraldine Aubert
Sherri Birchansky