From incomplete penetrance with normal telomere length to severe disease and telomere shortening in a family with monoallelic and biallelic PARN pathogenic variants期刊界 All Journals 搜尽天下杂志传播学术成果专业期刊搜索期刊信息化学术搜索

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

Authors:	Lois M. Dodson Alessandro Baldan Mikael Nissbeck Sethu M. R. Gunja Penelope E. Bonnen Geraldine Aubert Sherri Birchansky Anders Virtanen Alison A. Bertuch

Abstract:

Keywords:	idiopathic pulmonary fibrosis incomplete penetrance MIR202 PARN poly(A)‐specific ribonuclease telomere biology disorder